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Peter St George-Hyslop
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53
Rogaeva, Ekaterina
45
Kawarai, Toshitaka
44
Fraser, Paul
24
Chen, Fusheng
24
Westaway, David
22
Yu, Gang G.
19
Sato, Christine
16
Levesque, Georges
15
Liang, Yan
15
Nishimura, M
15
Tandon, Anurag
14
Checler, Frédéric
13
Ikeda, Masaki
12
Farrer, Lindsay
11
Hasegawa, Hiroshi
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All Publications
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2009: Pardossi-Piquard Raphaëlle; Böhm Christopher; Chen Fusheng; Kanemoto Soshi; Checler Frédéric; Schmitt-Ulms Gerold; St George-Hyslop Peter; Fraser Paul E
TMP21 transmembrane domain regulates gamma-secretase cleavage.
The Journal of biological chemistry 2009;284(42):28634-41.
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2009: Pardossi-Piquard Raphaëlle; Yang Seung-Pil; Kanemoto Soshi; Gu Yongjun; Chen Fusheng; Böhm Christopher; Sevalle Jean; Li Tong; Wong Philip C; Checler Frédéric; Schmitt-Ulms Gerold; St George-Hyslop Peter; Fraser Paul E
APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.
The Journal of biological chemistry 2009;284(24):16298-307.
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2009: Vincent Bruno; Sunyach Claire; Orzechowski Hans-Dieter; St George-Hyslop Peter; Checler Frédéric
p53-Dependent transcriptional control of cellular prion by presenilins.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(20):6752-60.
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2009: Mayeux Richard; St George-Hyslop Peter
Brain traffic: subcellular transport of the amyloid precursor protein.
Archives of neurology 2009;66(4):433-4.
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2009: Pardossi-Piquard Raphaëlle; Dunys Julie; Giaime Emilie; Guillot-Sestier Marie-Victoire; St George-Hyslop Peter; Checler Frédéric; Alves da Costa Cristine
p53-dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent gamma-secretase complex.
Journal of neurochemistry 2009;109(1):225-37.
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2009: Evans Barbara A; Evans James E; Baker Stephen P; Kane Kevin; Swearer Joan; Hinerfeld Douglas; Caselli Richard; Rogaeva Ekaterina; St George-Hyslop Peter; Moonis Majaz; Pollen Daniel A
Long-term statin therapy and CSF cholesterol levels: implications for Alzheimer's disease.
Dementia and geriatric cognitive disorders 2009;27(6):519-24.
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2008: Tamboli Irfan Y; Prager Kai; Thal Dietmar R; Thelen Karin M; Dewachter Ilse; Pietrzik Claus U; St George-Hyslop Peter; Sisodia Sangram S; De Strooper Bart; Heneka Michael T; Filippov Mikhail A; Müller Ulrike; van Leuven Fred; Lütjohann Dieter; Walter Jochen
Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(46):12097-106.
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2008: Pettersen Jacqueline A; Sathiyamoorthy Gayathri; Gao Fu-Qiang; Szilagyi Gregory; Nadkarni Neelesh K; St George-Hyslop Peter; Rogaeva Ekaterina; Black Sandra E
Microbleed topography, leukoaraiosis, and cognition in probable Alzheimer disease from the Sunnybrook dementia study.
Archives of neurology 2008;65(6):790-5.
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2008: Dolcini Virginia; Dunys Julie; Sevalle Jean; Chen Fusheng; Guillot-Sestier Marie-Victoire; St George-Hyslop Peter; Fraser Paul E; Checler Frédéric
TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin.
Biochemical and biophysical research communications 2008;371(1):69-74.
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2008: Lee Joseph H; Cheng Rong; Rogaeva Ekaterina; Meng Yan; Stern Yaakov; Santana Vincent; Lantigua Rafael; Medrano Martin; Jimenez-Velazquez Ivonne Z; Farrer Lindsay A; St George-Hyslop Peter; Mayeux Richard
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease.
Neurogenetics 2008;9(2):127-38.
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2008: Lee Joseph H; Barral Sandra; Cheng Rong; Chacon Inara; Santana Vincent; Williamson Jennifer; Lantigua Rafael; Medrano Martin; Jimenez-Velazquez Ivonne Z; Stern Yaakov; Tycko Benjamin; Rogaeva Ekaterina; Wakutani Yosuke; Kawarai Toshitaka; St George-Hyslop Peter; Mayeux Richard
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.
Neurogenetics 2008;9(1):51-60.
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2008: Bai Yu; Markham Kelly; Chen Fusheng; Weerasekera Rasanjala; Watts Joel; Horne Patrick; Wakutani Yosuke; Bagshaw Rick; Mathews Paul M; Fraser Paul E; Westaway David; St George-Hyslop Peter; Schmitt-Ulms Gerold
The in vivo brain interactome of the amyloid precursor protein.
Molecular & cellular proteomics : MCP 2008;7(1):15-34.
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2007: Pardossi-Piquard Raphaëlle; Chen Fusheng; Silva-Gagliardi Nancy F; Szego Michael; McInnes Roderick; McGlade C Jane; St George-Hyslop Peter; Fraser Paul E
Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.
Biochemistry 2007;46(48):13704-10.
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2007: Checler Frédéric; Sunyach Claire; Pardossi-Piquard Raphaelle; Sévalle Jean; Vincent Bruno; Kawarai Toshitaka; Girardot Nadège; St George-Hyslop Peter; da Costa Cristine Alves
The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53.
Current Alzheimer research 2007;4(4):423-6.
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2007: Paterson Andrew D; Liu Xiao-Qing; Wang Kairong; Magistroni Riccardo; Song Xuewen; Kappel Joanne; Klassen Judith; Cattran Daniel; St George-Hyslop Peter; Pei York
Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36.
Journal of the American Society of Nephrology : JASN 2007;18(8):2408-15.
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2007: Bruni A C; Momeni P; Bernardi L; Tomaino C; Frangipane F; Elder J; Kawarai T; Sato C; Pradella S; Wakutani Y; Anfossi M; Gallo M; Geracitano S; Costanzo A; Smirne N; Curcio S A M; Mirabelli M; Puccio G; Colao R; Maletta R G; Kertesz A; St George-Hyslop P; Hardy J; Rogaeva E
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
Neurology 2007;69(2):140-7.
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2007: Lee Joseph H; Cheng Rong; Schupf Nicole; Manly Jennifer; Lantigua Rafael; Stern Yaakov; Rogaeva Ekaterina; Wakutani Yosuke; Farrer Lindsay; St George-Hyslop Peter; Mayeux Richard
The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.
Archives of neurology 2007;64(4):501-6.
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2007: Pardossi-Piquard Raphaëlle; Dunys Julie; Kawarai Toshitaka; Sunyach Claire; Alves da Costa Cristine; Vincent Bruno; Sévalle Jean; Pimplikar Sanjay; St George-Hyslop Peter; Checler Frédéric
Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554.
Neuron 2007;53(4):483-6.
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2007: Brijbassi Sonya; Amtul Zareen; Newbigging Susan; Westaway David; St George-Hyslop Peter; Rozmahel Richard F
Excess of nicastrin in brain results in heterozygosity having no effect on endogenous APP processing and amyloid peptide levels in vivo.
Neurobiology of disease 2007;25(2):291-6.
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2007: Dunys Julie; Kawarai Toshitaka; Giaime Emilie; Wilk Sherwin; Herrant M; Auberger P; St George-Hyslop Peter; Alves da Costa Cristine; Checler Frédéric
Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2.
Neuro-degenerative diseases 2007;4(2-3):156-63.
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2006: Lee Joseph H; Cheng Rong; Santana Vincent; Williamson Jennifer; Lantigua Rafael; Medrano Martin; Arriaga Alex; Stern Yaakov; Tycko Benjamin; Rogaeva Ekaterina; Wakutani Yosuke; Kawarai Toshitaka; St George-Hyslop Peter; Mayeux Richard
Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease.
Archives of neurology 2006;63(11):1591-8.
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2006: Masellis Mario; Momeni Parastoo; Meschino Wendy; Heffner Reid; Elder Joshua; Sato Christine; Liang Yan; St George-Hyslop Peter; Hardy John; Bilbao Juan; Black Sandra; Rogaeva Ekaterina
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.
Brain : a journal of neurology 2006;129(Pt 11):3115-23.
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2006: Klünemann Hans H; Fronhöfer Wolfgang; Werner-Füchtenbusch Doris; Grasbon-Frodl Eva; Kloiber Stefan; Wurster Herbert W; St George-Hyslop Peter H; Rogaeva Ekaterina
Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia.
Alzheimer disease and associated disorders 2006;20(4):291-4.
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2006: Murakami Tetsuro; Paitel Erwan; Kawarabayashi Takeshi; Ikeda Masaki; Chishti M Azhar; Janus Christopher; Matsubara Etsuro; Sasaki Atsushi; Kawarai Toshitaka; Phinney Amie L; Harigaya Yasuo; Horne Patrick; Egashira Nobuaki; Mishima Kenichi; Hanna Amanda; Yang Jing; Iwasaki Katsunori; Takahashi Mitsuo; Fujiwara Michihiro; Ishiguro Koichi; Bergeron Catherine; Carlson George A; Abe Koji; Westaway David; St George-Hyslop Peter; Shoji Mikio
Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation.
The American journal of pathology 2006;169(4):1365-75.
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2006: Wislet-Gendebien Sabine; D'Souza Cheryl; Kawarai Toshitaka; St George-Hyslop Peter; Westaway David; Fraser Paul; Tandon Anurag
Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes.
The Journal of biological chemistry 2006;281(43):32148-55.
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2006: Kaneko Satoshi; Kawarai Toshitaka; Yip Edwin; Salehi-Rad Shabnam; Sato Christine; Orlacchio Antonio; Bernardi Giorgio; Liang Yan; Hasegawa Hiroshi; Rogaeva Ekaterina; St George-Hyslop Peter
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
Movement disorders : official journal of the Movement Disorder Society 2006;21(9):1531-3.
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2006: Rogaeva Ekaterina; Zadikoff Cindy; Ponesse Jonathan; Schmitt-Ulms Gerold; Kawarai Toshitaka; Sato Christine; Salehi-Rad Shabnam; St George-Hyslop Peter; Lang Anthony E
Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
Archives of neurology 2006;63(7):1016-21.
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2006: McLaurin JoAnne; Kierstead Meredith E; Brown Mary E; Hawkes Cheryl A; Lambermon Mark H L; Phinney Amie L; Darabie Audrey A; Cousins Julian E; French Janet E; Lan Melissa F; Chen Fusheng; Wong Sydney S N; Mount Howard T J; Fraser Paul E; Westaway David; St George-Hyslop Peter
Cyclohexanehexol inhibitors of Abeta aggregation prevent and reverse Alzheimer phenotype in a mouse model.
Nature medicine 2006;12(7):801-8.
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2006: Alves da Costa Cristine; Sunyach Claire; Pardossi-Piquard Raphaelle; Sévalle Jean; Vincent Bruno; Boyer Nicole; Kawarai Toshitaka; Girardot Nadège; St George-Hyslop Peter; Checler Frédéric
Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(23):6377-85.
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2006: Zadikoff Cindy; Rogaeva Ekaterina; Djarmati Ana; Sato Christine; Salehi-Rad Shabnam; St George-Hyslop Peter; Klein Christine; Lang Anthony E
Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
Movement disorders : official journal of the Movement Disorder Society 2006;21(6):875-9.
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2006: Nguyen Van; Hawkins Cynthia; Bergeron Catherine; Supala Agnes; Huang Jean; Westaway David; St George-Hyslop Peter; Rozmahel Richard
Loss of nicastrin elicits an apoptotic phenotype in mouse embryos.
Brain research 2006;1086(1):76-84.
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2006: Pardossi-Piquard R; Dunys J; Yu G; St George-Hyslop P; Alves da Costa C; Checler F
Neprilysin activity and expression are controlled by nicastrin.
Journal of neurochemistry 2006;97(4):1052-6.
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2006: Chen Fusheng; Hasegawa Hiroshi; Schmitt-Ulms Gerold; Kawarai Toshitaka; Bohm Christopher; Katayama Taiichi; Gu Yongjun; Sanjo Nobuo; Glista Michael; Rogaeva Ekaterina; Wakutani Yosuke; Pardossi-Piquard Raphaëlle; Ruan Xueying; Tandon Anurag; Checler Frédéric; Marambaud Philippe; Hansen Kirk; Westaway David; St George-Hyslop Peter; Fraser Paul
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
Nature 2006;440(7088):1208-12.
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2006: Dunys Julie; Kawarai Toshitaka; Wilk Sherwin; St George-Hyslop Peter; Alves da Costa Cristine; Checler Frédéric
Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins.
The Biochemical journal 2006;394(Pt 2):501-9.
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2006: Uchihara Toshiki; Sanjo Nobuo; Nakamura Ayako; Han Kyung; Song Si-Young; St George-Hyslop Peter; Fraser Paul E
Transient abundance of presenilin 1 fragments/nicastrin complex associated with synaptogenesis during development in rat cerebellum.
Neurobiology of aging 2006;27(1):88-97.
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2006: Shibata Nobuto; Kawarai Toshitaka; Lee Joseph H; Lee Hye-Seung; Shibata Eri; Sato Christine; Liang Yan; Duara Rajan; Mayeux Richard P; St George-Hyslop Peter H; Rogaeva Ekaterina
Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
Neuroscience letters 2006;391(3):142-6.
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2006: Momeni Parastoo; Schymick Jennifer; Jain Shushant; Cookson Mark R; Cairns Nigel J; Greggio Elisa; Greenway Matthew J; Berger Stephen; Pickering-Brown Stuart; Chiò Adriano; Fung Hon Chung; Holtzman David M; Huey Edward D; Wassermann Eric M; Adamson Jennifer; Hutton Michael L; Rogaeva Ekaterina; St George-Hyslop Peter; Rothstein Jeffrey D; Hardiman Orla; Grafman Jordan; Singleton Andrew; Hardy John; Traynor Bryan J
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
BMC neurology 2006;6():44.
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2006: Momeni Parastoo; Rogaeva Ekaterina; Van Deerlin Vivianna; Yuan Wuxing; Grafman Jordan; Tierney Michael; Huey Edward; Bell Jason; Morris Chris M; Kalaria Rajesh N; van Rensburg Susan J; Niehaus Dana; Potocnik Felix; Kawarai Toshitaka; Salehi-Rad Shabnam; Sato Christine; St George-Hyslop Peter; Hardy John
Genetic variability in CHMP2B and frontotemporal dementia.
Neuro-degenerative diseases 2006;3(3):129-33.
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2005: Petit Agnes; Kawarai Toshitaka; Paitel Erwan; Sanjo Nobuo; Maj Mary; Scheid Michael; Chen Fusheng; Gu Yongjun; Hasegawa Hiroshi; Salehi-Rad Shabnam; Wang Linda; Rogaeva Ekaterina; Fraser Paul; Robinson Brian; St George-Hyslop Peter; Tandon Anurag
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.
The Journal of biological chemistry 2005;280(40):34025-32.
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2005: Paisán-Ruíz C; Lang A E; Kawarai T; Sato C; Salehi-Rad S; Fisman G K; Al-Khairallah T; St George-Hyslop P; Singleton A; Rogaeva E
LRRK2 gene in Parkinson disease: mutation analysis and case control association study.
Neurology 2005;65(5):696-700.
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2005: Orlacchio Antonio; Kawarai Toshitaka; Gaudiello Fabrizio; St George-Hyslop Peter H; Floris Roberto; Bernardi Giorgio
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.
Annals of neurology 2005;58(3):423-9.
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2005: Orlacchio Antonio; Kawarai Toshitaka; Gaudiello Fabrizio; Totaro Antonio; Schillaci Orazio; Stefani Alessandro; Floris Roberto; St George-Hyslop Peter H; Sorbi Sandro; Bernardi Giorgio
Clinical and genetic study of a large SPG4 Italian family.
Movement disorders : official journal of the Movement Disorder Society 2005;20(8):1055-9.
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2005: Moonis M; Swearer J M; Dayaw M P E; St George-Hyslop P; Rogaeva E; Kawarai T; Pollen D A
Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline.
Neurology 2005;65(2):323-5.
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2005: Mastrangelo Peter; Mathews Paul M; Chishti M Azhar; Schmidt Stephen D; Gu Yongjun; Yang Jing; Mazzella Matthew J; Coomaraswamy Janaky; Horne Patrick; Strome Bob; Pelly Heather; Levesque Georges; Ebeling Chris; Jiang Ying; Nixon Ralph A; Rozmahel Richard; Fraser Paul E; St George-Hyslop Peter; Carlson George A; Westaway David
Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(25):8972-7.
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2005: Pardossi-Piquard Raphaëlle; Petit Agnès; Kawarai Toshitaka; Sunyach Claire; Alves da Costa Cristine; Vincent Bruno; Ring Sabine; D'Adamio Luciano; Shen Jie; Müller Ulrike; St George Hyslop Peter; Checler Frédéric
Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP.
Neuron 2005;46(4):541-54.
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2005: Paterson Andrew D; Magistroni Riccardo; He Ning; Wang Kairong; Johnson Ann; Fain Pamela R; Dicks Elizabeth; Parfrey Patrick; St George-Hyslop Peter; Pei York
Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 2005;16(3):755-62.
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2005: Sato Christine; Morgan Angharad; Lang Anthony E; Salehi-Rad Shabnam; Kawarai Toshitaka; Meng Yan; Ray Peter N; Farrer Lindsay A; St George-Hyslop Peter; Rogaeva Ekaterina
Analysis of the glucocerebrosidase gene in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2005;20(3):367-70.
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2005: St George-Hyslop Peter H; Petit Agnès
Molecular biology and genetics of Alzheimer's disease.
Comptes rendus biologies 2005;328(2):119-30.
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2005: Ikeda Masaki; Shoji Mikio; Kawarai Toshitaka; Kawarabayashi Takeshi; Matsubara Etsuro; Murakami Tetsuro; Sasaki Atsushi; Tomidokoro Yasushi; Ikarashi Yasushi; Kuribara Hisashi; Ishiguro Koichi; Hasegawa Masato; Yen Shu-Hui; Chishti M Azhar; Harigaya Yasuo; Abe Koji; Okamoto Koichi; St George-Hyslop Peter; Westaway David
Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice.
The American journal of pathology 2005;166(2):521-31.
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2005: Tian Xiaodan; Cecal Roxana; McLaurin JoAnne; Manea Marilena; Stefanescu Raluca; Grau Sandra; Harnasch Mona; Amir Sarah; Ehrmann Michael; St George-Hyslop Peter; Kohlmann Markus; Przybylski Michael
Identification and structural characterisation of carboxy-terminal polypeptides and antibody epitopes of Alzheimer's amyloid precursor protein using high-resolution mass spectrometry.
European journal of mass spectrometry (Chichester, England) 2005;11(5):547-56.
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2004: Rogaeva Ekaterina; Johnson Janel; Lang Anthony E; Gulick Cindy; Gwinn-Hardy Katrina; Kawarai Toshitaka; Sato Christine; Morgan Angharad; Werner John; Nussbaum Robert; Petit Agnes; Okun Michael S; McInerney Aideen; Mandel Ronald; Groen Justus L; Fernandez Hubert H; Postuma Ron; Foote Kelly D; Salehi-Rad Shabnam; Liang Yan; Reimsnider Sharon; Tandon Anurag; Hardy John; St George-Hyslop Peter; Singleton Andrew B
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Archives of neurology 2004;61(12):1898-904.
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2004: Groen Justus L; Kawarai Toshitaka; Toulina Anna; Rivoiro Chiara; Salehi-Rad Shabnam; Sato Christine; Morgan Angharad; Liang Yan; Postuma Ronald B; St George-Hyslop Peter; Lang Anthony E; Rogaeva Ekaterina
Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.
Neuroscience letters 2004;372(3):226-9.
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2004: Hasegawa Hiroshi; Sanjo Nobuo; Chen Fusheng; Gu Yong-Jun; Shier Cortney; Petit Agnes; Kawarai Toshitaka; Katayama Taiichi; Schmidt Stephen D; Mathews Paul M; Schmitt-Ulms Gerold; Fraser Paul E; St George-Hyslop Peter
Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes.
The Journal of biological chemistry 2004;279(45):46455-63.
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2004: Lee J H; Mayeux R; Mayo D; Mo J; Santana V; Williamson J; Flaquer A; Ciappa A; Rondon H; Estevez P; Lantigua R; Kawarai T; Toulina A; Medrano M; Torres M; Stern Y; Tycko B; Rogaeva E; St George-Hyslop P; Knowles J A
Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.
Molecular psychiatry 2004;9(11):1042-51.
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2004: Klünemann Hans H; Rogaeva Ekaterina; Neumann Manuela; Kretzschmar Hans A; Kandel Michael; Toulina Anna; Sato Christine; Salehi-Rad Shabnam; Pfister Karin; Klein Helmfried E; St George-Hyslop Peter H
Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.
Alzheimer disease and associated disorders 2004;18(4):256-8.
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2004: Gelinas David S; DaSilva Kevin; Fenili Daniela; St George-Hyslop Peter; McLaurin Joanne
Immunotherapy for Alzheimer's disease.
Proceedings of the National Academy of Sciences of the United States of America 2004;101 Suppl 2():14657-62.
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2004: Alves da Costa Cristine; Ayral Erwan; Hernandez Jean-François; St George-Hyslop Peter; Checler Frédéric
Presenilin-directed inhibitors of gamma-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells.
Journal of neurochemistry 2004;90(4):800-6.
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2004: Gu Yongjun; Sanjo Nobuo; Chen Fusheng; Hasegawa Hiroshi; Petit Agnes; Ruan Xueying; Li Wenping; Shier Cortney; Kawarai Toshitaka; Schmitt-Ulms Gerold; Westaway David; St George-Hyslop Peter; Fraser Paul E
The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities.
The Journal of biological chemistry 2004;279(30):31329-36.
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2004: Orlacchio Antonio; Kawarai Toshitaka; Totaro Antonio; Errico Alessia; St George-Hyslop Peter H; Rugarli Elena I; Bernardi Giorgio
Hereditary spastic paraplegia: clinical genetic study of 15 families.
Archives of neurology 2004;61(6):849-55.
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2004: Orlacchio Antonio; Kawarai Toshitaka; Polidoro Mario; Paterson Andrew D; Rogaeva Ekaterina; Orlacchio Aldo; St George-Hyslop Peter H; Bernardi Giorgio
Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene.
Neuroscience letters 2004;363(1):49-53.
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2004: Orlacchio A; Gaudiello F; Totaro A; Floris R; St George-Hyslop P H; Bernardi G; Kawarai T
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
Neurology 2004;62(10):1875-8.
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2004: Peltekova Vanya D; Wintle Richard F; Rubin Laurence A; Amos Christopher I; Huang Qiqing; Gu Xiangjun; Newman Bill; Van Oene Mark; Cescon David; Greenberg Gordon; Griffiths Anne M; St George-Hyslop Peter H; Siminovitch Katherine A
Functional variants of OCTN cation transporter genes are associated with Crohn disease.
Nature genetics 2004;36(5):471-5.
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2003: Phinney Amie L; Drisaldi Bettina; Schmidt Stephen D; Lugowski Stan; Coronado Veronica; Liang Yan; Horne Patrick; Yang Jing; Sekoulidis Joannis; Coomaraswamy Janaky; Chishti M Azhar; Cox Diane W; Mathews Paul M; Nixon Ralph A; Carlson George A; St George-Hyslop Peter; Westaway David
In vivo reduction of amyloid-beta by a mutant copper transporter.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(24):14193-8.
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2003: Rogaeva E; Bergeron C; Sato C; Moliaka I; Kawarai T; Toulina A; Song Y-Q; Kolesnikova T; Orlacchio A; Bernardi G; St George-Hyslop P H
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
Neurology 2003;61(7):1005-7.
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2003: Tandon Anurag; Yu Haung; Wang Linda; Rogaeva Ekaterina; Sato Christine; Chishti M Azhar; Kawarai Toshitaka; Hasegawa Hiroshi; Chen Fusheng; Davies Peter; Fraser Paul E; Westaway David; St George-Hyslop Peter H
Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles.
Journal of neurochemistry 2003;86(3):572-81.
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2003: Di Natale Manuela; Perri Maria; Kawarai Toshitaka; Maletta Raffaele; Tomaino Carmine; Sato Christine; Nacmias Benedetta; Shibata Nobuto; Sorbi Sandro; St George-Hyslop Peter H; Bruni Amalia C; Rogaeva Ekaterina
Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
Neuroscience letters 2003;343(3):210-2.
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2003: Chen Fusheng; Tandon Anurag; Sanjo Nobuo; Gu Yong-Jun; Hasegawa Hiroshi; Arawaka Shigeki; Lee Frank J S; Ruan Xueying; Mastrangelo Peter; Erdebil Serap; Wang Linda; Westaway David; Mount Howard T J; Yankner Bruce; Fraser Paul E; St George-Hyslop Peter
Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain.
The Journal of biological chemistry 2003;278(22):19974-9.
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2003: Gu Yongjun; Chen Fusheng; Sanjo Nobuo; Kawarai Toshitaka; Hasegawa Hiroshi; Duthie Monica; Li Wenping; Ruan Xueying; Luthra Anchla; Mount Howard T J; Tandon Anurag; Fraser Paul E; St George-Hyslop Peter
APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.
The Journal of biological chemistry 2003;278(9):7374-80.
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2002: Liauw Jennifer; Nguyen Van; Huang Jean; St George-Hyslop Peter; Rozmahel Richard
Differential display analysis of presenilin 1-deficient mouse brains.
Brain research. Molecular brain research 2002;109(1-2):56-62.
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2002: Arawaka Shigeki; Hasegawa Hiroshi; Tandon Anurag; Janus Christopher; Chen Fusheng; Yu Gang; Kikuchi Kenji; Koyama Shingo; Kato Takeo; Fraser Paul E; St George-Hyslop Peter
The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein.
Journal of neurochemistry 2002;83(5):1065-71.
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2002: Orlacchio Antonio; Kawarai Toshitaka; Polidoro Mario; Stefani Alessandro; Orlacchio Aldo; St George-Hyslop Peter H; Bernardi Giorgio
Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.
Neuroscience letters 2002;333(2):115-8.
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2002: McLaurin J; Cecal R; Kierstead M E; Tian X; Phinney A L; Manea M; French J E; Lambermon M H L; Darabie A A; Brown M E; Janus C; Chishti M A; Horne P; Westaway D; Fraser P E; Mount H T J; Przybylski M; St George-Hyslop P
Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis.
Nature medicine 2002;8(11):1263-9.
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2002: Rozmahel Richard; Mount Howard T J; Chen Fusheng; Nguyen Van; Huang Jean; Erdebil Serap; Liauw Jennifer; Yu Gang; Hasegawa Hiroshe; Gu YongJun; Song You-Qiang; Schmidt Stephen D; Nixon Ralph A; Mathews Paul M; Bergeron Catherine; Fraser Paul; Westaway David; St George-Hyslop Peter
Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(22):14452-7.
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2002: Chen Fusheng; Gu YongJun; Hasegawa Hiroshi; Ruan Xueying; Arawaka Shigeki; Fraser Paul; Westaway David; Mount Howard; St George-Hyslop Peter
Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch.
The Journal of biological chemistry 2002;277(39):36521-6.
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2002: Yang Dun-Sheng; Tandon Anurag; Chen Fusheng; Yu Gang; Yu Haung; Arawaka Shigeki; Hasegawa Hiroshi; Duthie Monika; Schmidt Stephen D; Ramabhadran Triprayer V; Nixon Ralph A; Mathews Paul M; Gandy Samuel E; Mount Howard T J; St George-Hyslop Peter; Fraser Paul E
Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins.
The Journal of biological chemistry 2002;277(31):28135-42.
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2002: Rozmahel R; Huang J; Chen F; Liang Y; Nguyen V; Ikeda M; Levesque G; Yu G; Nishimura M; Mathews P; Schmidt S D; Mercken M; Bergeron C; Westaway D; St George-Hyslop P
Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP.
Neurobiology of aging 2002;23(2):187-94.
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2002: Jo Euijung; Fuller Nola; Rand R Peter; St George-Hyslop Peter; Fraser Paul E
Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein.
Journal of molecular biology 2002;315(4):799-807.
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2002: Taddei K; Fisher C; Laws S M; Martins G; Paton A; Clarnette R M; Chung C; Brooks W S; Hallmayer J; Miklossy J; Relkin N; St George-Hyslop P H; Gandy S E; Martins R N
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.
Molecular psychiatry 2002;7(7):776-81.
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2001: Athan E S; Williamson J; Ciappa A; Santana V; Romas S N; Lee J H; Rondon H; Lantigua R A; Medrano M; Torres M; Arawaka S; Rogaeva E; Song Y Q; Sato C; Kawarai T; Fafel K C; Boss M A; Seltzer W K; Stern Y; St George-Hyslop P; Tycko B; Mayeux R
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
JAMA : the journal of the American Medical Association 2001;286(18):2257-63.
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2001: Chen F; Yu G; Arawaka S; Nishimura M; Kawarai T; Yu H; Tandon A; Supala A; Song Y Q; Rogaeva E; Milman P; Sato C; Yu C; Janus C; Lee J; Song L; Zhang L; Fraser P E; St George-Hyslop P H
Nicastrin binds to membrane-tethered Notch.
Nature cell biology 2001;3(8):751-4.
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2001: Fraser P E; Yu G; Lévesque L; Nishimura M; Yang D S; Mount H T; Westaway D; St George-Hyslop P H
Presenilin function: connections to Alzheimer's disease and signal transduction.
Biochemical Society symposium 2001;(67):89-100.
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2000: Janus C; Pearson J; McLaurin J; Mathews P M; Jiang Y; Schmidt S D; Chishti M A; Horne P; Heslin D; French J; Mount H T; Nixon R A; Mercken M; Bergeron C; Fraser P E; St George-Hyslop P; Westaway D
A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease.
Nature 2000;408(6815):979-82.
-
2000: St George-Hyslop P H
Piecing together Alzheimer's.
Scientific American 2000;283(6):76-83.
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2000: Grilli M; Diodato E; Lozza G; Brusa R; Casarini M; Uberti D; Rozmahel R; Westaway D; St George-Hyslop P; Memo M; Ongini E
Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(23):12822-7.
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2000: Chen F; Yang D S; Petanceska S; Yang A; Tandon A; Yu G; Rozmahel R; Ghiso J; Nishimura M; Zhang D M; Kawarai T; Levesque G; Mills J; Levesque L; Song Y Q; Rogaeva E; Westaway D; Mount H; Gandy S; St George-Hyslop P; Fraser P E
Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.
The Journal of biological chemistry 2000;275(47):36794-802.
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2000: Jo E; McLaurin J; Yip C M; St George-Hyslop P; Fraser P E
alpha-Synuclein membrane interactions and lipid specificity.
The Journal of biological chemistry 2000;275(44):34328-34.
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2000: St George-Hyslop P
Alzheimer's disease.
Neurobiology of disease 2000;7(5):546-8.
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2000: Devi G; Fotiou A; Jyrinji D; Tycko B; DeArmand S; Rogaeva E; Song Y Q; Medieros H; Liang Y; Orlacchio A; Williamson J; St George-Hyslop P; Mayeux R
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease.
Archives of neurology 2000;57(10):1454-7.
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2000: Zhang D M; Levitan D; Yu G; Nishimura M; Chen F; Tandon A; Kawarai T; Arawaka S; Supala A; Song Y Q; Rogaeva E; Liang Y; Holmes E; Milman P; Sato C; Zhang L; St George-Hyslop P
Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans.
Neuroreport 2000;11(14):3227-30.
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2000: Yu G; Nishimura M; Arawaka S; Levitan D; Zhang L; Tandon A; Song Y Q; Rogaeva E; Chen F; Kawarai T; Supala A; Levesque L; Yu H; Yang D S; Holmes E; Milman P; Liang Y; Zhang D M; Xu D H; Sato C; Rogaev E; Smith M; Janus C; Zhang Y; Aebersold R; Farrer L S; Sorbi S; Bruni A; Fraser P; St George-Hyslop P
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.
Nature 2000;407(6800):48-54.
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2000: Lippa C F; Swearer J M; Kane K J; Nochlin D; Bird T D; Ghetti B; Nee L E; St George-Hyslop P; Pollen D A; Drachman D A
Familial Alzheimer's disease: site of mutation influences clinical phenotype.
Annals of neurology 2000;48(3):376-9.
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2000: Tandon A; Rogaeva E; Mullan M; St George-Hyslop P H
Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins.
Current opinion in neurology 2000;13(4):377-84.
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2000: Gestri D; Cecchi C; Tedde A; Latorraca S; Orlacchio A; Grassi E; Massaro A M; Liguri G; St George-Hyslop P H; Sorbi S
Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.
Neuroscience letters 2000;289(3):157-60.
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2000: Janus C; D'Amelio S; Amitay O; Chishti M A; Strome R; Fraser P; Carlson G A; Roder J C; St George-Hyslop P; Westaway D
Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes.
Neurobiology of aging 2000;21(4):541-9.
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2000: Fraser P E; Yang D S; Yu G; Lévesque L; Nishimura M; Arawaka S; Serpell L C; Rogaeva E; St George-Hyslop P
Presenilin structure, function and role in Alzheimer disease.
Biochimica et biophysica acta 2000;1502(1):1-15.
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2000: Verdile G; Martins R N; Duthie M; Holmes E; St George-Hyslop P H; Fraser P E
Inhibiting amyloid precursor protein C-terminal cleavage promotes an interaction with presenilin 1.
The Journal of biological chemistry 2000;275(27):20794-8.
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2000: Watnick T; He N; Wang K; Liang Y; Parfrey P; Hefferton D; St George-Hyslop P; Germino G; Pei Y
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
Nature genetics 2000;25(2):143-4.
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2000: Orlacchio A; Kawarai T; Massaro A M; St George-Hyslop P H; Sorbi S
Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.
Neuroscience letters 2000;285(2):83-6.
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2000: Kertesz A; Kawarai T; Rogaeva E; St George-Hyslop P; Poorkaj P; Bird T D; Munoz D G
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.
Neurology 2000;54(4):818-27.
-
2000: St George-Hyslop P H
Molecular genetics of Alzheimer's disease.
Biological psychiatry 2000;47(3):183-99.
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2000: Yu G; Chen F; Nishimura M; Steiner H; Tandon A; Kawarai T; Arawaka S; Supala A; Song Y Q; Rogaeva E; Holmes E; Zhang D M; Milman P; Fraser P; Haass C; St George-Hyslop P
Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.
Acta neurologica Scandinavica. Supplementum 2000;176():6-11.
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1999: Miake H; Tsuchiya K; Nakamura A; Ikeda K; Levesque L; Fraser P E; St-George Hyslop P H; Mizusawa H; Uchihara T
Glial expression of presenilin epitopes in human brain with cerebral infarction and in astrocytoma.
Acta neuropathologica 1999;98(4):337-40.
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1999: Lévesque L; Annaert W; Craessaerts K; Mathews P M; Seeger M; Nixon R A; Van Leuven F; Gandy S; Westaway D; St George-Hyslop P; De Strooper B; Fraser P E
Developmental expression of wild-type and mutant presenilin-1 in hippocampal neurons from transgenic mice: evidence for novel species-specific properties of human presenilin-1.
Molecular medicine (Cambridge, Mass.) 1999;5(8):542-54.
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1999: De Jonghe C; Cruts M; Rogaeva E A; Tysoe C; Singleton A; Vanderstichele H; Meschino W; Dermaut B; Vanderhoeven I; Backhovens H; Vanmechelen E; Morris C M; Hardy J; Rubinsztein D C; St George-Hyslop P H; Van Broeckhoven C
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
Human molecular genetics 1999;8(8):1529-40.
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1999: Pei Y; Watnick T; He N; Wang K; Liang Y; Parfrey P; Germino G; St George-Hyslop P
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1999;10(7):1524-9.
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1999: Rogaeva E A; Premkumar S; Grubber J; Serneels L; Scott W K; Kawarai T; Song Y; Hill D L; Abou-Donia S M; Martin E R; Vance J J; Yu G; Orlacchio A; Pei Y; Nishimura M; Supala A; Roberge B; Saunders A M; Roses A D; Schmechel D; Crane-Gatherum A; Sorbi S; Bruni A; Small G W; Conneally P M; Haines J L; Van Leuven F; St George-Hyslop P H; Farrer L A; Pericak-Vance M A
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.
Nature genetics 1999;22(1):19-22.
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1999: Nishimura M; Yu G; St George-Hyslop P H
Biology of presenilins as causative molecules for Alzheimer disease.
Clinical genetics 1999;55(4):219-25.
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1999: Levesque G; Yu G; Nishimura M; Zhang D M; Levesque L; Yu H; Xu D; Liang Y; Rogaeva E; Ikeda M; Duthie M; Murgolo N; Wang L; VanderVere P; Bayne M L; Strader C D; Rommens J M; Fraser P E; St George-Hyslop P
Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin.
Journal of neurochemistry 1999;72(3):999-1008.
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1999: Nishimura M; Yu G; Levesque G; Zhang D M; Ruel L; Chen F; Milman P; Holmes E; Liang Y; Kawarai T; Jo E; Supala A; Rogaeva E; Xu D M; Janus C; Levesque L; Bi Q; Duthie M; Rozmahel R; Mattila K; Lannfelt L; Westaway D; Mount H T; Woodgett J; St George-Hyslop P
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.
Nature medicine 1999;5(2):164-9.
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1999: St George-Hyslop P H
Molecular genetics of Alzheimer disease.
Seminars in neurology 1999;19(4):371-83.
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1998: Lippa C F; Fujiwara H; Mann D M; Giasson B; Baba M; Schmidt M L; Nee L E; O'Connell B; Pollen D A; St George-Hyslop P; Ghetti B; Nochlin D; Bird T D; Cairns N J; Lee V M; Iwatsubo T; Trojanowski J Q
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes.
The American journal of pathology 1998;153(5):1365-70.
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1998: Lippa C F; Nee L E; Mori H; St George-Hyslop P
Abeta-42 deposition precedes other changes in PS-1 Alzheimer's disease.
Lancet 1998;352(9134):1117-8.
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1998: Pei Y; He N; Wang K; Kasenda M; Paterson A D; Chan G; Liang Y; Roscoe J; Brissenden J; Hefferton D; Parfrey P; Somlo S; St George-Hyslop P
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
Journal of the American Society of Nephrology : JASN 1998;9(10):1853-60.
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1998: Citron M; Eckman C B; Diehl T S; Corcoran C; Ostaszewski B L; Xia W; Levesque G; St George Hyslop P; Younkin S G; Selkoe D J
Additive effects of PS1 and APP mutations on secretion of the 42-residue amyloid beta-protein.
Neurobiology of disease 1998;5(2):107-16.
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1998: Rogaeva E; Premkumar S; Song Y; Sorbi S; Brindle N; Paterson A; Duara R; Levesque G; Yu G; Nishimura M; Ikeda M; O'Toole C; Kawarai T; Jorge R; Vilarino D; Bruni A C; Farrer L A; St George-Hyslop P H
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.
JAMA : the journal of the American Medical Association 1998;280(7):614-8.
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1998: Song Y Q; Rogaeva E; Premkumar S; Brindle N; Kawarai T; Orlacchio A; Yu G; Levesque G; Nishimura M; Ikeda M; Pei Y; O'Toole C; Duara R; Barker W; Sorbi S; Freedman M; Farrer L; St George-Hyslop P
Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.
Neuroscience letters 1998;250(3):189-92.
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1998: Yu G; Chen F; Levesque G; Nishimura M; Zhang D M; Levesque L; Rogaeva E; Xu D; Liang Y; Duthie M; St George-Hyslop P H; Fraser P E
The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin.
The Journal of biological chemistry 1998;273(26):16470-5.
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1998: Tamaoka A; Fraser P E; Ishii K; Sahara N; Ozawa K; Ikeda M; Saunders A M; Komatsuzaki Y; Sherrington R; Levesque G; Yu G; Rogaeva E; Shoji S; Nee L E; Pollen D A; Hendriks L; Martin J J; Van Broeckhoven C; Roses A D; Farrer L A; St George-Hyslop P H; Mori H
Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease.
Brain research. Molecular brain research 1998;56(1-2):178-85.
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1998: Pei Y; Wang K; Kasenda M; Paterson A D; Liang Y; Huang E; Lian J; Rogovea E; Somlo S; St George-Hyslop P
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
Kidney international 1998;53(5):1127-32.
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1998: Brindle N; Song Y; Rogaeva E; Premkumar S; Levesque G; Yu G; Ikeda M; Nishimura M; Paterson A; Sorbi S; Duara R; Farrer L; St George-Hyslop P
Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.
Human molecular genetics 1998;7(5):933-5.
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1998: Fraser P E; Levesque G; Yu G; Mills L R; Thirlwell J; Frantseva M; Gandy S E; Seeger M; Carlen P L; St George-Hyslop P
Presenilin 1 is actively degraded by the 26S proteasome.
Neurobiology of aging 1998;19(1 Suppl):S19-21.
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1998: Cruts M; van Duijn C M; Backhovens H; Van den Broeck M; Wehnert A; Serneels S; Sherrington R; Hutton M; Hardy J; St George-Hyslop P H; Hofman A; Van Broeckhoven C
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Human molecular genetics 1998;7(1):43-51.
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1998: Ramirez-Dueñas M G; Rogaeva E A; Leal C A; Lin C; Ramirez-Casillas G A; Hernandez-Romo J A; St George-Hyslop P H; Cantu J M
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
Annales de génétique 1998;41(3):149-53.
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1997: Okochi M; Ishii K; Usami M; Sahara N; Kametani F; Tanaka K; Fraser P E; Ikeda M; Saunders A M; Hendriks L; Shoji S I; Nee L E; Martin J J; Van Broeckhoven C; St George-Hyslop P H; Roses A D; Mori H
Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations.
FEBS letters 1997;418(1-2):162-6.
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1997: Kwok J B; Taddei K; Hallupp M; Fisher C; Brooks W S; Broe G A; Hardy J; Fulham M J; Nicholson G A; Stell R; St George Hyslop P H; Fraser P E; Kakulas B; Clarnette R; Relkin N; Gandy S E; Schofield P R; Martins R N
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
Neuroreport 1997;8(6):1537-42.
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1997: Boulianne G L; Livne-Bar I; Humphreys J M; Liang Y; Lin C; Rogaev E; St George-Hyslop P
Cloning and characterization of the Drosophila presenilin homologue.
Neuroreport 1997;8(4):1025-9.
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1997: Rogaev E I; Sherrington R; Wu C; Levesque G; Liang Y; Rogaeva E A; Ikeda M; Holman K; Lin C; Lukiw W J; de Jong P J; Fraser P E; Rommens J M; St George-Hyslop P
Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
Genomics 1997;40(3):415-24.
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1997: Cantillon M; Harwood D; Barker W; St George-Hyslop P; Tsuda T; Ekatarina R; Duara R
No association between apolipoprotein E genotype and late-onset depression in Alzheimer's disease.
Biological psychiatry 1997;41(2):246-8.
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1997: Citron M; Westaway D; Xia W; Carlson G; Diehl T; Levesque G; Johnson-Wood K; Lee M; Seubert P; Davis A; Kholodenko D; Motter R; Sherrington R; Perry B; Yao H; Strome R; Lieberburg I; Rommens J; Kim S; Schenk D; Fraser P; St George Hyslop P; Selkoe D J
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
Nature medicine 1997;3(1):67-72.
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1997: Podlisny M B; Citron M; Amarante P; Sherrington R; Xia W; Zhang J; Diehl T; Levesque G; Fraser P; Haass C; Koo E H; Seubert P; St George-Hyslop P; Teplow D B; Selkoe D J
Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue.
Neurobiology of disease 1997;3(4):325-37.
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1996: Ikeda M; Sharma V; Sumi S M; Rogaeva E A; Poorkaj P; Sherrington R; Nee L; Tsuda T; Oda N; Watanabe M; Aoki M; Shoji M; Abe K; Itoyama Y; Hirai S; Schellenberg G D; Bird T D; St George-Hyslop P H
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
Annals of neurology 1996;40(6):912-7.
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1996: Uchihara T; el Hachimi H K; Duyckaerts C; Foncin J F; Fraser P E; Levesque L; St George-Hyslop P H; Hauw J J
Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study.
Acta neuropathologica 1996;92(4):325-30.
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1996: Sherrington R; Froelich S; Sorbi S; Campion D; Chi H; Rogaeva E A; Levesque G; Rogaev E I; Lin C; Liang Y; Ikeda M; Mar L; Brice A; Agid Y; Percy M E; Clerget-Darpoux F; Piacentini S; Marcon G; Nacmias B; Amaducci L; Frebourg T; Lannfelt L; Rommens J M; St George-Hyslop P H
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Human molecular genetics 1996;5(7):985-8.
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1996: Igarashi S; Takiyama Y; Cancel G; Rogaeva E A; Sasaki H; Wakisaka A; Zhou Y X; Takano H; Endo K; Sanpei K; Oyake M; Tanaka H; Stevanin G; Abbas N; Dürr A; Rogaev E I; Sherrington R; Tsuda T; Ikeda M; Cassa E; Nishizawa M; Benomar A; Julien J; Weissenbach J; Wang G X; Agid Y; St George-Hyslop P H; Brice A; Tsuji S
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Human molecular genetics 1996;5(7):923-32.
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1996: Tierney M C; Szalai J P; Snow W G; Fisher R H; Nores A; Nadon G; Dunn E; St George-Hyslop P H
Prediction of probable Alzheimer's disease in memory-impaired patients: A prospective longitudinal study.
Neurology 1996;46(3):661-5.
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1996: Tierney M C; Szalai J P; Snow W G; Fisher R H; Tsuda T; Chi H; McLachlan D R; St George-Hyslop P H
A prospective study of the clinical utility of ApoE genotype in the prediction of outcome in patients with memory impairment.
Neurology 1996;46(1):149-54.
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1995: Tuite P J; Rogaeva E A; St George-Hyslop P H; Lang A E
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.
Annals of neurology 1995;38(4):684-7.
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1994: Mortilla M; Vaula G; St George-Hyslop P H
Assessment of genetic polymorphisms in DNA from formalin fixed neurological tissues.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1994;21(3):248-51.
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1994: Rogaev E I; Lukiw W J; Lavrushina O; Rogaeva E A; St George-Hyslop P H
The upstream promoter of the beta-amyloid precursor protein gene (APP) shows differential patterns of methylation in human brain.
Genomics 1994;22(2):340-7.
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1993: Rogaev E I; Rogaeva E A; Ginter E K; Korovaitseva G I; Farrer L A; Shlensky A B; Pritkov A N; Mordovtsev V N; St George-Hyslop P H
Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.
Nature genetics 1993;5(2):158-62.
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1993: Pericak-Vance M A; St George-Hyslop P H; Gaskell P C; Growdon J; Crain B J; Hulette C; Gusella J F; Yamaoka L; Tanzi R E; Roses A D
Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.
Genetic epidemiology 1993;10(6):361-4.
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1992: Rogaev E; Rogaeva E; Lukiw W J; Vaula G; Liang Y; Hancock R; McLachlan D C; St George-Hyslop P H
An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.
Human molecular genetics 1992;1(9):781.
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1992: St George-Hyslop P H; Ohno H; Gusella J F; McKeithan T
The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.
Nucleic acids research 1992;20(4):927.
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1990: St George-Hyslop P H; Haines J L; Farrer L A; Polinsky R; Van Broeckhoven C; Goate A; McLachlan D R; Orr H; Bruni A C; Sorbi S
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. FAD Collaborative Study Group.
Nature 1990;347(6289):194-7.
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1990: Farrer L A; Myers R H; Cupples L A; St George-Hyslop P H; Bird T D; Rossor M N; Mullan M J; Polinsky R; Nee L; Heston L
Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity.
Neurology 1990;40(3 Pt 1):395-403.
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1987: St George-Hyslop P H; Tanzi R E; Polinsky R J; Neve R L; Pollen D; Drachman D; Growdon J; Cupples L A; Nee L; Myers R H
Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease.
Science (New York, N.Y.) 1987;238(4827):664-6.
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1987: Tanzi R E; St George-Hyslop P H; Haines J L; Polinsky R J; Nee L; Foncin J F; Neve R L; McClatchey A I; Conneally P M; Gusella J F
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.
Nature 1987;329(6135):156-7.
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1987: St George-Hyslop P H; Tanzi R E; Polinsky R J; Haines J L; Nee L; Watkins P C; Myers R H; Feldman R G; Pollen D; Drachman D
The genetic defect causing familial Alzheimer's disease maps on chromosome 21.
Science (New York, N.Y.) 1987;235(4791):885-90.
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