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Richard Proia

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Sandra E Dillahunt; Alasdair Gilfillan; Richard L Proia; Juan Rivera; Jennifer L Sargent; Ryo Suzuki; Ana Olivera
Usage of sphingosine kinase isoforms in mast cells is species and/or cell type determined.
Ana Olivera; Maria Laura Allende; Richard L Proia
Shaping the landscape: Metabolic regulation of S1P gradients.
Lin Zhang; Verena Barocke; Andreas Billich; Steffen-Sebastian Bolz; Daniel Braun; Reinhard Fässler; Florian Gaertner; Thomas Graf; Tobias Junt; Michael Lorenz; Eloi Montanez; Alexandra Müller; Martin Orban; Marco Prinz; Richard L Proia; Christian Schulz; Michael Sixt; Anca Tirniceriu; Nicole Urtz; Ulrich H von Andrian; Louisa von Baumgarten; Marie-Luise von Brühl; Steffen Massberg
A novel role of sphingosine 1-phosphate receptor S1pr1 in mouse thrombopoiesis.

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All Publications

2013: Sandra E Dillahunt; Alasdair Gilfillan; Richard L Proia; Juan Rivera; Jennifer L Sargent; Ryo Suzuki; Ana Olivera
Usage of sphingosine kinase isoforms in mast cells is species and/or cell type determined.
Journal of immunology (Baltimore, Md. : 1950) 2013;190(5):2058-67.
2013: Ana Olivera; Maria Laura Allende; Richard L Proia
Shaping the landscape: Metabolic regulation of S1P gradients.
Biochimica et biophysica acta 2013;1831(1):193-202.
2012: Lin Zhang; Verena Barocke; Andreas Billich; Steffen-Sebastian Bolz; Daniel Braun; Reinhard Fässler; Florian Gaertner; Thomas Graf; Tobias Junt; Michael Lorenz; Eloi Montanez; Alexandra Müller; Martin Orban; Marco Prinz; Richard L Proia; Christian Schulz; Michael Sixt; Anca Tirniceriu; Nicole Urtz; Ulrich H von Andrian; Louisa von Baumgarten; Marie-Luise von Brühl; Steffen Massberg
A novel role of sphingosine 1-phosphate receptor S1pr1 in mouse thrombopoiesis.
The Journal of experimental medicine 2012;209(12):2165-81.
2012: Kenneth C Loh; Babak Oskouian; Richard L Proia; Morgan E Carlson; henrik fyrst; Eric Hoffman; Ashok Kumar; Weng-In Leong; Meng Zhang; Julie Saba
Sphingosine-1-phosphate enhances satellite cell activation in dystrophic muscles through a S1PR2/STAT3 signaling pathway.
PloS one 2012;7(5):e37218.
2011: Jesse A Green; Daniel Palmer; Richard L Proia; Timothy H Schmidt; Kazuhiro Suzuki; L David Willison; Ying Xu; Christopher D C Allen; Bryan Cho; Shaun R Coughlin; Jason G Cyster
The sphingosine 1-phosphate receptor S1P₂ maintains the homeostasis of germinal center B cells and promotes niche confinement.
Nature immunology 2011;12(7):672-80.
2011: Maria Allende; Meryem Bektas; Bridgin G Lee; Eliana Bonifacino; Jiman Kang; Galina Tuymetova; WeiPing Chen; Julie D Saba; Richard L Proia
Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking.
The Journal of biological chemistry 2011;286(9):7348-58.
2010: Maria Allende; Galina Tuymetova; Bridgin G Lee; Eliana Bonifacino; Yun-Ping Wu; Richard L Proia
S1P1 receptor directs the release of immature B cells from bone marrow into blood.
The Journal of experimental medicine 2010;207(5):1113-24.
2010: Ana Olivera; Christoph Eisner; Yoshiaki Kitamura; Sandra Dillahunt; Laura Allende; Galina Tuymetova; Wendy Watford; Francoise Meylan; Susanne C Diesner; Lingli Li; Jurgen Schnermann; Richard L Proia; Juan Rivera
Sphingosine kinase 1 and sphingosine-1-phosphate receptor 2 are vital to recovery from anaphylactic shock in mice.
The Journal of clinical investigation 2010;120(5):1429-40.
2009: Nadine Hagen; Paul P Van Veldhoven; Richard L Proia; Hyejung Park; Alfred H Merrill; Gerhild van Echten-Deckert
Subcellular origin of sphingosine 1-phosphate is essential for its toxic effect in lyase-deficient neurons.
The Journal of biological chemistry 2009;284(17):11346-53.
2008: Juan Rivera; Richard L Proia; Ana Olivera
The alliance of sphingosine-1-phosphate and its receptors in immunity.
Nature reviews. Immunology 2008;8(10):753-63.
2008: Mari Kono; Maria Allende; Richard L Proia
Sphingosine-1-phosphate regulation of mammalian development.
Biochimica et biophysica acta 2008;1781(9):435-41.
2008: Yun-Ping Wu; Kiyomi Mizugishi; Meryem Bektas; Roger Sandhoff; Richard L Proia
Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.
Human molecular genetics 2008;17(15):2257-64.
2008: Maria Allende; Dapeng Zhou; Danielle N Kalkofen; Sonia Benhamed; Galina Tuymetova; Christine Borowski; Albert Bendelac; Richard L Proia
S1P1 receptor expression regulates emergence of NKT cells in peripheral tissues.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(1):307-15.
2007: Kiyomi Mizugishi; Cuiling Li; Ana Olivera; Jacek Bielawski; Alicja Bielawska; Chu-Xia Deng; Richard L Proia
Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice.
The Journal of clinical investigation 2007;117(10):2993-3006.
2007: Athanasia Skoura; Teresa Sanchez; Kevin P Claffey; Suzanne Mandala; Richard L Proia; timothy hla
Essential role of sphingosine 1-phosphate receptor 2 in pathological angiogenesis of the mouse retina.
The Journal of clinical investigation 2007;117(9):2506-16.
2007: Mari Kono; Inna A Belyantseva; Athanasia Skoura; Gregory I Frolenkov; Matthew F Starost; Jennifer L Dreier; Darcy Lidington; Steffen-Sebastian Bolz; Thomas B Friedman; timothy hla; Richard L Proia
Deafness and stria vascularis defects in S1P2 receptor-null mice.
The Journal of biological chemistry 2007;282(14):10690-6.
2007: Ana Olivera; Kiyomi Mizugishi; Anastassia Tikhonova; Laura Ciaccia; Sandra Odom; Richard L Proia; Juan Rivera
The sphingosine kinase-sphingosine-1-phosphate axis is a determinant of mast cell function and anaphylaxis.
Immunity 2007;26(3):287-97.
2007: Wenmei Li; Roger Sandhoff; Mari Kono; Patricia Zerfas; Vickie Hoffmann; Bryan Char-Hoa Ding; Richard L Proia; Chu-Xia Deng
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice.
International journal of biological sciences 2007;3(2):120-8.
2006: Kenji Kabashima; Nicole M Haynes; Ying Xu; Stephen L Nutt; Maria Allende; Richard L Proia; Jason G Cyster
Plasma cell S1P1 expression determines secondary lymphoid organ retention versus bone marrow tropism.
The Journal of experimental medicine 2006;203(12):2683-90.
2006: Masataka Kohno; Michiko Momoi; Myat Lin Oo; Ji-Hye Paik; Yong-Moon Lee; Krishnan Venkataraman; Youxi Ai; Ari P Ristimaki; henrik fyrst; Hajime Sano; Daniel Rosenberg; Julie Saba; Richard L Proia; timothy hla
Intracellular role for sphingosine kinase 1 in intestinal adenoma cell proliferation.
Molecular and cellular biology 2006;26(19):7211-23.
2006: Jason Michaud; Masataka Kohno; Richard L Proia; timothy hla
Normal acute and chronic inflammatory responses in sphingosine kinase 1 knockout mice.
FEBS letters 2006;580(19):4607-12.
2006: Krishnan Venkataraman; Shobha Thangada; Jason Michaud; Myat Lin Oo; Youxi Ai; Yong-Moon Lee; Mingtao Wu; Nehal S Parikh; Faraz Khan; Richard L Proia; timothy hla
Extracellular export of sphingosine kinase-1a contributes to the vascular S1P gradient.
The Biochemical journal 2006;397(3):461-71.
2006: Mari Kono; Jennifer L Dreier; Jessica M Ellis; Maria Allende; Danielle N Kalkofen; Kathleen M Sanders; Jacek Bielawski; Alicja Bielawska; Yusuf A Hannun; Richard L Proia
Neutral ceramidase encoded by the Asah2 gene is essential for the intestinal degradation of sphingolipids.
The Journal of biological chemistry 2006;281(11):7324-31.
2006: Ana Olivera; Nicole Urtz; Kiyomi Mizugishi; Yumi Yamashita; Alasdair M Gilfillan; Yasuko Furumoto; Haihua Gu; Richard L Proia; Thomas Baumruker; Juan Rivera
IgE-dependent activation of sphingosine kinases 1 and 2 and secretion of sphingosine 1-phosphate requires Fyn kinase and contributes to mast cell responses.
The Journal of biological chemistry 2006;281(5):2515-25.
2005: Kiyomi Mizugishi; Tadashi Yamashita; Ana Olivera; Georgina F Miller; Sarah Spiegel; Richard L Proia
Essential role for sphingosine kinases in neural and vascular development.
Molecular and cellular biology 2005;25(24):11113-21.
2005: Tadashi Yamashita; Maria Allende; Danielle N Kalkofen; Norbert Werth; Konrad Sandhoff; Richard L Proia
Conditional LoxP-flanked glucosylceramide synthase allele controlling glycosphingolipid synthesis.
Genesis (New York, N.Y. : 2000) 2005;43(4):175-80.
2005: Cornelia Halin; M Lucila Scimone; Roberto Bonasio; Jean-Marc Gauguet; Thorsten R Mempel; Elizabeth J Quackenbush; Richard L Proia; Suzanne Mandala; Ulrich H von Andrian
The S1P-analog FTY720 differentially modulates T-cell homing via HEV: T-cell-expressed S1P1 amplifies integrin activation in peripheral lymph nodes but not in Peyer patches.
Blood 2005;106(4):1314-22.
2005: Roger Sandhoff; Rudolf Geyer; Richard Jennemann; Claudia Paret; Eva Kiss; Tadashi Yamashita; Karin Gorgas; Tjeerd P Sijmonsma; Masao Iwamori; Catherine Finaz; Richard L Proia; Herbert Wiegandt; Hermann-Josef Gröne
Novel class of glycosphingolipids involved in male fertility.
The Journal of biological chemistry 2005;280(29):27310-8.
2005: Tadashi Yamashita; Yun-Ping Wu; Roger Sandhoff; Norbert Werth; Hiroki Mizukami; Jessica M Ellis; Jeffrey L Dupree; Rudolf Geyer; Konrad Sandhoff; Richard L Proia
Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(8):2725-30.
2005: Charles G Lo; Ying Xu; Richard L Proia; Jason G Cyster
Cyclical modulation of sphingosine-1-phosphate receptor 1 surface expression during lymphocyte recirculation and relationship to lymphoid organ transit.
The Journal of experimental medicine 2005;201(2):291-301.
2005: Yun-Ping Wu; Hiroki Mizukami; Junko Matsuda; Yuko Saito; Richard L Proia; Kinuko Suzuki
Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.
Molecular genetics and metabolism 2005;84(1):9-17.
2004: Maria Allende; Teiji Sasaki; Hiromichi Kawai; Ana Olivera; Yide Mi; Gerhild van Echten-Deckert; Richard Hajdu; Mark J Rosenbach; Carol Ann Keohane; Suzanne Mandala; Sarah Spiegel; Richard L Proia
Mice deficient in sphingosine kinase 1 are rendered lymphopenic by FTY720.
The Journal of biological chemistry 2004;279(50):52487-92.
2004: Rachel Myerowitz; Hiroki Mizukami; Kristine L Richardson; Laura S Finn; Cynthia J Tifft; Richard L Proia
Global gene expression in a type 2 Gaucher disease brain.
Molecular genetics and metabolism 2004;83(4):288-96.
2004: Ji-Hye Paik; Athanasia Skoura; Sung-Suk Chae; Ann E Cowan; David K Han; Richard L Proia; timothy hla
Sphingosine 1-phosphate receptor regulation of N-cadherin mediates vascular stabilization.
Genes & development 2004;18(19):2392-403.
2004: Mari Kono; Yide Mi; Yujing Liu; Teiji Sasaki; Maria Allende; Yun-Ping Wu; Tadashi Yamashita; Richard L Proia
The sphingosine-1-phosphate receptors S1P1, S1P2, and S1P3 function coordinately during embryonic angiogenesis.
The Journal of biological chemistry 2004;279(28):29367-73.
2004: Guy Cinamon; Mehrdad Matloubian; Matthew J Lesneski; Ying Xu; Caroline Low; Theresa Lu; Richard L Proia; Jason G Cyster
Sphingosine 1-phosphate receptor 1 promotes B cell localization in the splenic marginal zone.
Nature immunology 2004;5(7):713-20.
2004: Yun-Ping Wu; Richard L Proia
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(22):8425-30.
2004: Michael J Forrest; S-Y Sun; Richard Hajdu; James Bergstrom; Deborah Card; George Doherty; Jeffrey Hale; Carol Ann Keohane; CAREN MEYERS; James A Milligan; S Mills; N Nomura; Hugh Rosen; Mark J Rosenbach; Gan-Ju Shei; Irwin I Singer; M Tian; S West; V White; J Xie; Richard L Proia; Suzanne Mandala
Immune cell regulation and cardiovascular effects of sphingosine 1-phosphate receptor agonists in rodents are mediated via distinct receptor subtypes.
The Journal of pharmacology and experimental therapeutics 2004;309(2):758-68.
2004: Sung-Suk Chae; Ji-Hye Paik; Maria Allende; Richard L Proia; timothy hla
Regulation of limb development by the sphingosine 1-phosphate receptor S1p1/EDG-1 occurs via the hypoxia/VEGF axis.
Developmental biology 2004;268(2):441-7.
2004: Maria Allende; Jennifer L Dreier; Suzanne Mandala; Richard L Proia
Expression of the sphingosine 1-phosphate receptor, S1P1, on T-cells controls thymic emigration.
The Journal of biological chemistry 2004;279(15):15396-401.
2004: Puneet S Jolly; Meryem Bektas; Ana Olivera; Claudia Gonzalez-Espinosa; Richard L Proia; Juan Rivera; Sheldon Milstien; Sarah Spiegel
Transactivation of sphingosine-1-phosphate receptors by FcepsilonRI triggering is required for normal mast cell degranulation and chemotaxis.
The Journal of experimental medicine 2004;199(7):959-70.
2004: Richard L Proia; Yun-Ping Wu
Blood to brain to the rescue.
The Journal of clinical investigation 2004;113(8):1108-10.
2004: Mehrdad Matloubian; Charles G Lo; Guy Cinamon; Matthew J Lesneski; Ying Xu; Volker Brinkmann; Maria Allende; Richard L Proia; Jason G Cyster
Lymphocyte egress from thymus and peripheral lymphoid organs is dependent on S1P receptor 1.
Nature 2004;427(6972):355-60.
2004: Sung-Suk Chae; Richard L Proia; timothy hla
Constitutive expression of the S1P1 receptor in adult tissues.
Prostaglandins & other lipid mediators 2004;73(1-2):141-50.
2003: Maria Allende; Tadashi Yamashita; Richard L Proia
G-protein-coupled receptor S1P1 acts within endothelial cells to regulate vascular maturation.
Blood 2003;102(10):3665-7.
2003: Richard L Proia
Glycosphingolipid functions: insights from engineered mouse models.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2003;358(1433):879-83.
2003: Tadashi Yamashita; Akira Hashiramoto; Martin Haluzik; Hiroki Mizukami; Shoshannah Beck; Aaron Norton; Mari Kono; Shuichi Tsuji; Jose L Daniotti; Norbert Werth; Roger Sandhoff; Konrad Sandhoff; Richard L Proia
Enhanced insulin sensitivity in mice lacking ganglioside GM3.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(6):3445-9.
2002: Tadashi Yamashita; Ryuichi Wada; Richard L Proia
Early developmental expression of the gene encoding glucosylceramide synthase, the enzyme controlling the first committed step of glycosphingolipid synthesis.
Biochimica et biophysica acta 2002;1573(3):236-40.
2002: Maria Allende; Richard L Proia
Lubricating cell signaling pathways with gangliosides.
Current opinion in structural biology 2002;12(5):587-92.
2002: Thomas Kolter; Richard L Proia; Konrad Sandhoff
Combinatorial ganglioside biosynthesis.
The Journal of biological chemistry 2002;277(29):25859-62.
2002: Roger Sandhoff; Stefan T Hepbildikler; Richard Jennemann; Rudolf Geyer; Volkmar Gieselmann; Richard L Proia; Herbert Wiegandt; Hermann-Josef Grone
Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometry.
The Journal of biological chemistry 2002;277(23):20386-98.
2002: Maria Allende; Richard L Proia
Sphingosine-1-phosphate receptors and the development of the vascular system.
Biochimica et biophysica acta 2002;1582(1-3):222-7.
2002: Rachel Myerowitz; Douglas Lawson; Hiroki Mizukami; Yide Mi; Cynthia J Tifft; Richard L Proia
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
Human molecular genetics 2002;11(11):1343-50.
2002: Hiroki Mizukami; Yide Mi; Ryuichi Wada; Mari Kono; Tadashi Yamashita; Yujing Liu; Norbert Werth; Roger Sandhoff; Konrad Sandhoff; Richard L Proia
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
The Journal of clinical investigation 2002;109(9):1215-21.
2002: Stefan T Hepbildikler; Roger Sandhoff; Melanie Kolzer; Richard L Proia; Konrad Sandhoff
Physiological substrates for human lysosomal beta -hexosaminidase S.
The Journal of biological chemistry 2002;277(4):2562-72.
2001: Hiromichi Kawai; Maria Allende; Ryuichi Wada; Mari Kono; K Sango; Chuxia Deng; T Miyakawa; Jacqueline N Crawley; Norbert Werth; U Bierfreund; Konrad Sandhoff; Richard L Proia
Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures.
The Journal of biological chemistry 2001;276(10):6885-8.
2001: Richard L Proia
Targeting the hexosaminidase genes: mouse models of the GM2 gangliosidoses.
Advances in genetics 2001;44():225-31.
2001: Richard L Proia
Cloning the beta-hexosaminidase genes.
Advances in genetics 2001;44():127-35.
2001: Mylvaganam Jeyakumar; F Norflus; Cynthia J Tifft; Mario Cortina Borja; Terry D Butters; Richard L Proia; V Hugh Perry; Raymond A Dwek; Frances M Platt
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.
Blood 2001;97(1):327-9.
2000: Cynthia J Tifft; Richard L Proia
Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases.
Glycobiology 2000;10(12):1249-58.
2000: A Potratz; S Hüttler; U Bierfreund; Richard L Proia; Koichi Suzuki; Konrad Sandhoff
Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency.
Biochimica et biophysica acta 2000;1502(3):391-7.
2000: Yujing Liu; Ryuichi Wada; Tadashi Yamashita; Yide Mi; Chu-Xia Deng; John P Hobson; Hans M Rosenfeldt; Victor E Nava; Sung-Suk Chae; Meng-Jer Lee; Catherine H Liu; timothy hla; Sarah Spiegel; Richard L Proia
Edg-1, the G protein-coupled receptor for sphingosine-1-phosphate, is essential for vascular maturation.
The Journal of clinical investigation 2000;106(8):951-61.
2000: Ryuichi Wada; Cynthia J Tifft; Richard L Proia
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(20):10954-9.
2000: Y Liu; Yun-Ping Wu; Ryuichi Wada; Edward B Neufeld; K A Mullin; A C Howard; Peter G Pentchev; marie T vanier; Koichi Suzuki; Richard L Proia
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
Human molecular genetics 2000;9(7):1087-92.
2000: Y Oya; Richard L Proia; F Norflus; Cynthia J Tifft; C Langaman; Koichi Suzuki
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
Acta neuropathologica 2000;99(2):161-8.
1999: Tadashi Yamashita; Ryuichi Wada; T Sasaki; Chuxia Deng; U Bierfreund; Konrad Sandhoff; Richard L Proia
A vital role for glycosphingolipid synthesis during development and differentiation.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(16):9142-7.
1999: Mylvaganam Jeyakumar; Terry D Butters; Mario Cortina Borja; V Hunnam; Richard L Proia; V Hugh Perry; Raymond A Dwek; Frances M Platt
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6388-93.
1999: Thomas Doering; Richard L Proia; Konrad Sandhoff
Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.
FEBS letters 1999;447(2-3):167-70.
1999: Yujing Liu; Ryuichi Wada; Hiromichi Kawai; K Sango; Chuxia Deng; T Tai; MP McDonald; K Araujo; Jacqueline N Crawley; U Bierfreund; Konrad Sandhoff; Koichi Suzuki; Richard L Proia
A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.
The Journal of clinical investigation 1999;103(4):497-505.
1998: Hiromichi Kawai; K Sango; K A Mullin; Richard L Proia
Embryonic stem cells with a disrupted GD3 synthase gene undergo neuronal differentiation in the absence of b-series gangliosides.
The Journal of biological chemistry 1998;273(31):19634-8.
1998: F Norflus; Cynthia J Tifft; MP McDonald; G Goldstein; Jacqueline N Crawley; A Hoffmann; Konrad Sandhoff; Koichi Suzuki; Richard L Proia
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.
The Journal of clinical investigation 1998;101(9):1881-8.
1998: Yujing Liu; Koichi Suzuki; J D Reed; A Grinberg; H Westphal; A Hoffmann; T Döring; Konrad Sandhoff; Richard L Proia
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(5):2503-8.
1998: Koichi Suzuki; Richard L Proia; K Suzuki
Mouse models of human lysosomal diseases.
Brain pathology (Zurich, Switzerland) 1998;8(1):195-215.
1997: Cynthia J Tifft; Richard L Proia
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Annals of medicine 1997;29(6):557-61.
1997: Yujing Liu; A Hoffmann; A Grinberg; H Westphal; MP McDonald; K M Miller; Jacqueline N Crawley; Konrad Sandhoff; Koichi Suzuki; Richard L Proia
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(15):8138-43.
1997: Koichi Suzuki; K Sango; Richard L Proia; C Langaman
Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.
Journal of neuropathology and experimental neurology 1997;56(6):693-703.
1997: Frances M Platt; G R Neises; Gabriele Reinkensmeier; MJ Townsend; V Hugh Perry; Richard L Proia; B Winchester; Raymond A Dwek; Terry D Butters
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin.
Science (New York, N.Y.) 1997;276(5311):428-31.
1997: M Pennybacker; Christina Schuette; B Liessem; Stefan T Hepbildikler; J A Kopetka; M R Ellis; Rachel Myerowitz; Konrad Sandhoff; Richard L Proia
Evidence for the involvement of Glu-355 in the catalytic action of human beta-hexosaminidase B.
The Journal of biological chemistry 1997;272(12):8002-6.
1997: G Narkis; A Adam; Lutfi Jaber; M Pennybacker; Richard L Proia; Ruth Navon
Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
Human mutation 1997;10(6):424-9.
1997: Liat Drucker; A Golan; D J Boles; K el Bedour; Richard L Proia; Ruth Navon
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
Human mutation 1997;9(3):260-4.
1996: K Sango; MP McDonald; Jacqueline N Crawley; M L Mack; Cynthia J Tifft; E Skop; C M Starr; A Hoffmann; Konrad Sandhoff; Kinuko Suzuki; Richard L Proia
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Nature genetics 1996;14(3):348-52.
1996: M Pennybacker; B Liessem; H Moczall; Cynthia J Tifft; Konrad Sandhoff; Richard L Proia
Identification of domains in human beta-hexosaminidase that determine substrate specificity.
The Journal of biological chemistry 1996;271(29):17377-82.
1996: F Norflus; S Yamanaka; Richard L Proia
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
DNA and cell biology 1996;15(2):89-97.
1995: K Sango; S Yamanaka; A Hoffmann; Y Okuda; A Grinberg; Heiner Westphal; MP McDonald; Jacqueline N Crawley; Konrad Sandhoff; Kinuko Suzuki; Richard L Proia
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
Nature genetics 1995;11(2):170-6.
1995: K Sango; O N Johnson; C A Kozak; Richard L Proia
beta-1,4-N-Acetylgalactosaminyltransferase involved in ganglioside synthesis: cDNA sequence, expression, and chromosome mapping of the mouse gene.
Genomics 1995;27(2):362-5.
1995: D J Boles; Richard L Proia
The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
American journal of human genetics 1995;56(3):716-24.
1995: Masako Taniike; S Yamanaka; Richard L Proia; C Langaman; T Bone-Turrentine; Kinuko Suzuki
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease.
Acta neuropathologica 1995;89(4):296-304.
1994: S Yamanaka; O N Johnson; M S Lyu; C A Kozak; Richard L Proia
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.
Genomics 1994;24(3):601-4.
1994: S Yamanaka; M D Johnson; A Grinberg; Heiner Westphal; Jacqueline N Crawley; Masako Taniike; Kinuko Suzuki; Richard L Proia
Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(21):9975-9.
1994: S Yamanaka; O N Johnson; F Norflus; D J Boles; Richard L Proia
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Genomics 1994;21(3):588-96.
1992: Liat Drucker; Richard L Proia; Ruth Navon
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
American journal of human genetics 1992;51(2):371-7.
1992: S Medda; Richard L Proia
The carboxylesterase family exhibits C-terminal sequence diversity reflecting the presence or absence of endoplasmic-reticulum-retention sequences.
European journal of biochemistry / FEBS 1992;206(3):801-6.
1992: G Weitz; Richard L Proia
Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis.
The Journal of biological chemistry 1992;267(14):10039-44.
1992: Cynthia J Tifft; Richard L Proia; R Daniel Camerini-Otero
The folding and cell surface expression of CD4 requires glycosylation.
The Journal of biological chemistry 1992;267(5):3268-73.
1991: Ruth Navon; Richard L Proia
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
American journal of human genetics 1991;48(2):412-9.
1990: J A Boose; Cynthia J Tifft; Richard L Proia; R Myerowitz
Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
Protein expression and purification 1990;1(2):111-20.
1990: Ruth Navon; E H Kolodny; H Mitsumoto; George H Thomas; Richard L Proia
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
American journal of human genetics 1990;46(4):817-21.
1989: S Sonderfeld-Fresko; Richard L Proia
Analysis of the glycosylation and phosphorylation of the lysosomal enzyme, beta-hexosaminidase B, by site-directed mutagenesis.
The Journal of biological chemistry 1989;264(13):7692-7.
1989: Ruth Navon; Richard L Proia
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
Science (New York, N.Y.) 1989;243(4897):1471-4.
1989: D V Quon; Richard L Proia; A V Fowler; J Bleibaum; Elizabeth F Neufeld
Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.
The Journal of biological chemistry 1989;264(6):3380-4.
1988: S Sonderfeld-Fresko; Richard L Proia
Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.
The Journal of biological chemistry 1988;263(26):13463-9.
1988: Richard L Proia
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(6):1883-7.
1984: A d'Azzo; Richard L Proia; Edwin H Kolodny; M M Kaback; Elizabeth F Neufeld
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
The Journal of biological chemistry 1984;259(17):11070-4.
1984: R Myerowitz; Richard L Proia
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(17):5394-8.
1984: Richard L Proia; A d'Azzo; Elizabeth F Neufeld
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.
The Journal of biological chemistry 1984;259(5):3350-4.
1983: R Myerowitz; A R Robbins; Richard L Proia; G G Sahagian; C M Puchalski; Elizabeth F Neufeld
Studies of lysosomal enzyme biosynthesis in cultured cells.
Methods in enzymology 1983;96():729-36.
1982: Richard L Proia; Elizabeth F Neufeld
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(20):6360-4.