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Manfred Kilimann

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Ramya Nair; Matthijs Verhage; Nils Brose; Nancy E Cooke; Heidi de Wit; SangYong Jung; Manfred W Kilimann; Juliane Lauks; JeongSeop Rhee
Neurobeachin regulates neurotransmitter receptor trafficking to synapses.
Greta Hultqvist; Dan Larhammar; Daniel Ocampo Daza; Manfred W Kilimann
Evolution of the vertebrate paralemmin gene family: ancient origin of gene duplicates suggests distinct functions.
Casey M Turk; Kristin E Williams; Douglas Anderton; Giovanna M Crisi; Katerina D Fagan-Solis; Joseph M Gozgit; Manfred W Kilimann; Sharon Marconi; Christopher N Otis; Sallie Smith-Schneider; Kathleen F Arcaro
Paralemmin-1 is over-expressed in estrogen-receptor positive breast cancers.

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All Publications

2013: Ramya Nair; Matthijs Verhage; Nils Brose; Nancy E Cooke; Heidi de Wit; SangYong Jung; Manfred W Kilimann; Juliane Lauks; JeongSeop Rhee
Neurobeachin regulates neurotransmitter receptor trafficking to synapses.
The Journal of cell biology 2013;200(1):61-80.
2012: Greta Hultqvist; Dan Larhammar; Daniel Ocampo Daza; Manfred W Kilimann
Evolution of the vertebrate paralemmin gene family: ancient origin of gene duplicates suggests distinct functions.
PloS one 2012;7(7):e41850.
2012: Casey M Turk; Kristin E Williams; Douglas Anderton; Giovanna M Crisi; Katerina D Fagan-Solis; Joseph M Gozgit; Manfred W Kilimann; Sharon Marconi; Christopher N Otis; Sallie Smith-Schneider; Kathleen F Arcaro
Paralemmin-1 is over-expressed in estrogen-receptor positive breast cancers.
Cancer cell international 2012;12(1):17.
2012: Pawel K Olszewski; Birgit Rathkolb; Ulf Risérus; Jan Rozman; Helgi B Schiöth; Siv Strömberg; Eckhard Wolf; Wolfgang Wurst; Martin Hrabě de Angelis; Johan Alsiö; Lore Becker; Nicole Ehrhardt; Ralf Elvert; Robert Fredriksson; Helmut Fuchs; Valérie Gailus-Durner; Wolfgang Hans; Sabine M Hölter; Josefin A Jacobsson; Martin Klingenspor; Anica Klockars; Thomas Klopstock; Allen S Levine; Claude Marcus; Manfred W Kilimann
Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.
PLoS genetics 2012;8(3):e1002568.
2011: Isabel del Pino; Michael Karas; Manfred W Kilimann; Ingo Paarmann; Heinrich Betz
The trafficking proteins Vacuolar Protein Sorting 35 and Neurobeachin interact with the glycine receptor β-subunit.
Biochemical and biophysical research communications 2011;412(3):435-40.
2011: Christoph Limbach; Nadine Thiede; Xiaolu Wang; Bin Hu; Greta Hultqvist; Michael M Laue; Manfred W Kilimann
Molecular in situ topology of Aczonin/Piccolo and associated proteins at the mammalian neurotransmitter release site.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(31):E392-401.
2011: Katharina Niesmann; Carsten Reissner; Astrid Rohlmann; Ilka Wolff; Gesche Born; Dorothee Breuer; Johannes Brockhaus; Manfred W Kilimann; Markus Missler
Dendritic spine formation and synaptic function require neurobeachin.
Nature communications 2011;2():557.
2010: Mikael Corell; Åsa Fex Svenningsen; Christoph Limbach; Manfred W Kilimann; David R Colman; Åsa Fex Svenningsen
Spatiotemporal distribution and function of N-cadherin in postnatal Schwann cells: A matter of adhesion?
Journal of neuroscience research 2010;88(11):2338-49.
2009: Lucian Medrihan; Astrid Rohlmann; Richard Fairless; Johanna Andrae; Markus Döring; Markus Missler; Weiqi Zhang; Manfred W Kilimann
Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
The Journal of physiology 2009;587(Pt 21):5095-106.
2009: X Wang; Bin Hu; Agata Zieba; Nicole G Neumann; Monika Kasper-Sonnenberg; Annegret Honsbein; Greta Hultqvist; Tim Conze; Wolfgang Witt; Christoph Limbach; Matthis Geitmann; Helena Danielson; Richard Kolarow; Gesa Niemann; Volkmar Lessmann; Manfred W Kilimann
A protein interaction node at the neurotransmitter release site: domains of Aczonin/Piccolo, Bassoon, CAST, and rim converge on the N-terminal domain of Munc13-1.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(40):12584-96.
2008: Pamela Arstikaitis; Catherine Gauthier-Campbell; Rosario Carolina Gutierrez Herrera; Kun Huang; Joshua N Levinson; Timothy H Murphy; Manfred W Kilimann; Carlo Sala; Michael A Colicos; Alaa El-Husseini
Paralemmin-1, a modulator of filopodia induction is required for spine maturation.
Molecular biology of the cell 2008;19(5):2026-38.
2007: Christian Kutzleb; Elisabeth Petrasch-Parwez; Manfred W Kilimann
Cellular and subcellular localization of paralemmin-1, a protein involved in cell shape control, in the rat brain, adrenal gland and kidney.
Histochemistry and cell biology 2007;127(1):13-30.
2005: Carl de Luca; Timothy J Kowalski; Yiying Zhang; Joel K Elmquist; Charlotte Lee; Manfred W Kilimann; Thomas Ludwig; Shun Mei Liu; Streamson Chua Jr.
Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes.
The Journal of clinical investigation 2005;115(12):3484-93.
2005: Bin Hu; Elisabeth Petrasch-Parwez; Michael M Laue; Manfred W Kilimann
Molecular characterization and immunohistochemical localization of palmdelphin, a cytosolic isoform of the paralemmin protein family implicated in membrane dynamics.
European journal of cell biology 2005;84(11):853-66.
2005: Sean J Pittock; Claudia F Lucchinetti; Joseph E Parisi; Eduardo E Benarroch; Bahram Mokri; Christina L Stephan; Kwang-Kuk Kim; Manfred W Kilimann; Vanda A Lennon
Amphiphysin autoimmunity: paraneoplastic accompaniments.
Annals of neurology 2005;58(1):96-107.
2005: Barbara Burwinkel; John W Scott; Christoph Bührer; Frank K H van Landeghem; Gerald F Cox; Callum J Wilson; D Grahame Hardie; Manfred W Kilimann
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
American journal of human genetics 2005;76(6):1034-49.
2005: Meryl A Castellini; Louise V Wolf; Bharesh K Chauhan; Deni S Galileo; Manfred W Kilimann; Ales Cvekl; Melinda K Duncan
Palm is expressed in both developing and adult mouse lens and retina.
BMC ophthalmology 2005;5():14.
2003: Barbara Burwinkel; Terje Rootwelt; Eli Anne Kvittingen; Pranesh K Chakraborty; Manfred W Kilimann
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Pediatric research 2003;54(6):834-9.
2003: Barbara Burwinkel; Bin Hu; Anja Schroers; Paula R Clemens; Shimon W Moses; Yoon S Shin; Dieter Pongratz; Matthias Vorgerd; Manfred W Kilimann
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
European journal of human genetics : EJHG 2003;11(7):516-26.
2003: Atsushi Otsuka; Kunitaka Hirose; Manfred W Kilimann; Tohru Kamata
Amphiphysin1 inhibits vitronectin-mediated cell adhesion, spreading, and migration in vitro.
Biochemical and biophysical research communications 2003;301(3):769-75.
2002: Bharesh K Chauhan; Nathan A Reed; Weijia Zhang; Melinda K Duncan; Manfred W Kilimann; Ales Cvekl
Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays.
The Journal of biological chemistry 2002;277(13):11539-48.
2001: X Wang; B Hu; Bastian Zimmermann; Manfred W Kilimann
Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha -helix motifs.
The Journal of biological chemistry 2001;276(35):32480-8.
2001: B Hu; N G Copeland; D J Gilbert; N A Jenkins; Manfred W Kilimann
The paralemmin protein family: identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distant cytosolic relative.
Biochemical and biophysical research communications 2001;285(5):1369-76.
2000: X Wang; Friedrich W Herberg; Michael M Laue; C Wullner; Bin Hu; Elisabeth Petrasch-Parwez; Manfred W Kilimann
Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2000;20(23):8551-65.
2000: Barbara Burwinkel; M S Tanner; Manfred W Kilimann
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
Journal of medical genetics 2000;37(5):376-7.
2000: Focke Ziemssen; Eckhart Sindern; JM Schröder; Y S Shin; Jochen Zange; Manfred W Kilimann; Jean-Pierre Malin; Matthias Vorgerd
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Annals of neurology 2000;47(4):536-40.
1999: X Wang; Mark Kibschull; Michael M Laue; B Lichte; Elisabeth Petrasch-Parwez; Manfred W Kilimann
Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin.
The Journal of cell biology 1999;147(1):151-62.
1999: Barbara Burwinkel; Sami A Sanjad; EA al-Sabban; ABBAS ALABBAD; Manfred W Kilimann
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Human genetics 1999;105(3):240-3.
1999: Barbara Burwinkel; J Kreuder; S Schweitzer; Matthias Vorgerd; Klaus Gempel; Klaus-Dieter Gerbitz; Manfred W Kilimann
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
Biochemical and biophysical research communications 1999;261(2):484-7.
1998: Christian Kutzleb; G Sanders; R Yamamoto; X Wang; B Lichte; Elisabeth Petrasch-Parwez; Manfred W Kilimann
Paralemmin, a prenyl-palmitoyl-anchored phosphoprotein abundant in neurons and implicated in plasma membrane dynamics and cell process formation.
The Journal of cell biology 1998;143(3):795-813.
1998: Barbara Burwinkel; G Miglierini; D E Jenne; D J Gilbert; N G Copeland; N A Jenkins; HZ Ring; Uta Francke; Manfred W Kilimann
Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.
Genomics 1998;49(3):462-6.
1998: Barbara Burwinkel; Manfred W Kilimann
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
Journal of molecular biology 1998;277(3):513-7.
1998: Barbara Burwinkel; L Amat; R G Gray; N Matsuo; K Muroya; K Narisawa; Ronald Sokol; M A Vilaseca; Manfred W Kilimann
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Human genetics 1998;102(4):423-9.
1998: Barbara Burwinkel; H D Bakker; E Herschkovitz; Shimon W Moses; Yoon S Shin; Manfred W Kilimann
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
American journal of human genetics 1998;62(4):785-91.
1998: Matthias Vorgerd; Barbara Burwinkel; Heinz Reichmann; Jean-Pierre Malin; Manfred W Kilimann
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Neurogenetics 1998;1(3):205-11.
1998: Matthias Vorgerd; Christian Kubisch; Barbara Burwinkel; Heinz Reichmann; Wilhelm Mortier; B Tettenborn; Dieter Pongratz; R Lindemuth; Martin Tegenthoff; Jean-Pierre Malin; Manfred W Kilimann
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Annals of neurology 1998;43(3):326-31.
1998: Barbara Burwinkel; S Shiomi; A Al Zaben; Manfred W Kilimann
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Human molecular genetics 1998;7(1):149-54.
1997: Barbara Burwinkel; Shimon W Moses; Manfred W Kilimann
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Human genetics 1997;101(2):170-4.
1997: Barbara Burwinkel; A J Maichele; O Aagenaes; H D Bakker; A Lerner; Yoon S Shin; J A Strachan; Manfred W Kilimann
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
Human molecular genetics 1997;6(7):1109-15.
1997: X Wang; Manfred W Kilimann
Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.
FEBS letters 1997;402(1):57-61.
1996: A J Maichele; Barbara Burwinkel; I Maire; O Søvik; Manfred W Kilimann
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Nature genetics 1996;14(3):337-40.
1996: A Wüllrich-Schmoll; Manfred W Kilimann
Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).
European journal of biochemistry / FEBS 1996;238(2):374-80.
1996: Barbara Burwinkel; Y S Shin; H D Bakker; J Deutsch; M J Lozano; I Maire; Manfred W Kilimann
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Human molecular genetics 1996;5(5):653-8.
1995: C Guimbal; A Klostermann; Manfred W Kilimann
Phylogenetic conservation of 4-aminobutyric acid (GABA) transporter isoforms. Cloning and pharmacological characterization of a GABA/beta-alanine transporter from Torpedo.
European journal of biochemistry / FEBS 1995;234(3):794-800.
1995: M Wehner; Manfred W Kilimann
Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).
Human genetics 1995;96(5):616-8.
1995: C Hoesche; P Bartsch; Manfred W Kilimann
The CRE consensus sequence in the synapsin I gene promoter region confers constitutive activation but no regulation by cAMP in neuroblastoma cells.
Biochimica et biophysica acta 1995;1261(2):249-56.
1995: M Gossen; A Wüllrich; Manfred W Kilimann
Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
Human genetics 1995;95(4):469-70.
1995: R Yamamoto; X Li; S Winter; U Francke; Manfred W Kilimann
Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.
Human molecular genetics 1995;4(2):265-8.
1994: M Wehner; P R Clemens; A G Engel; Manfred W Kilimann
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
Human molecular genetics 1994;3(11):1983-7.
1994: C Guimbal; Manfred W Kilimann
A creatine transporter cDNA from Torpedo illustrates structure/function relationships in the GABA/noradrenaline transporter family.
Journal of molecular biology 1994;241(2):317-24.
1993: C Hoesche; A Sauerwald; Rüdiger W Veh; B Krippl; Manfred W Kilimann
The 5'-flanking region of the rat synapsin I gene directs neuron-specific and developmentally regulated reporter gene expression in transgenic mice.
The Journal of biological chemistry 1993;268(35):26494-502.
1993: A Schneider; J J Davidson; A Wüllrich; Manfred W Kilimann
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
Nature genetics 1993;5(4):381-5.
1993: A Wüllrich; C Hamacher; A Schneider; Manfred W Kilimann
The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.
The Journal of biological chemistry 1993;268(31):23208-14.
1993: C Guimbal; Manfred W Kilimann
A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression.
The Journal of biological chemistry 1993;268(12):8418-21.
1992: G Sanders; B Lichte; Helmut E Meyer; Manfred W Kilimann
cDNA encoding the chicken ortholog of the mouse dilute gene product. Sequence comparison reveals a myosin I subfamily with conserved C-terminal domains.
FEBS letters 1992;311(3):295-8.
1992: B Lichte; Rüdiger W Veh; Helmut E Meyer; Manfred W Kilimann
Amphiphysin, a novel protein associated with synaptic vesicles.
The EMBO journal 1992;11(7):2521-30.
1992: J J Davidson; T Ozçelik; C Hamacher; P J Willems; U Francke; Manfred W Kilimann
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(6):2096-100.
1991: B Harmann; N F Zander; Manfred W Kilimann
Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing.
The Journal of biological chemistry 1991;266(24):15631-7.
1990: B Harmann; Manfred W Kilimann
cDNA encoding a 59 kDa homolog of ribosomal protein S6 kinase from rabbit liver.
FEBS letters 1990;273(1-2):248-52.
1990: A Sauerwald; C Hoesche; R Oschwald; Manfred W Kilimann
The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function.
The Journal of biological chemistry 1990;265(25):14932-7.
1990: Manfred W Kilimann
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.
Journal of inherited metabolic disease 1990;13(4):435-41.
1990: P J Barnard; J M Derry; A S Ryder-Cook; N F Zander; Manfred W Kilimann
Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.
Cytogenetics and cell genetics 1990;53(2-3):91-4.
1989: U Francke; B T Darras; N F Zander; Manfred W Kilimann
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
American journal of human genetics 1989;45(2):276-82.
1988: Manfred W Kilimann; N F Zander; C C Kuhn; J W Crabb; Helmut E Meyer; Ludwig M G Heilmeyer
The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(24):9381-5.
1988: N F Zander; Helmut E Meyer; E Hoffmann-Posorske; J W Crabb; Ludwig M G Heilmeyer; Manfred W Kilimann
cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).
Proceedings of the National Academy of Sciences of the United States of America 1988;85(9):2929-33.