Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.

Praschberger, Roman; Lowe, Simon A; Malintan, Nancy T; Giachello, Carlo N G; Patel, Nian; Houlden, Henry; Kullmann, Dimitri M; Baines, Richard A; Usowicz, Maria M; Krishnakumar, Shyam S; Hodge, James J L; Rothman, James E; Jepson, James E C

Praschberger, Roman; Lowe, Simon A; Malintan, Nancy T; Giachello, Carlo N G; Patel, Nian; Houlden, Henry; Kullmann, Dimitri M; Baines, Richard A; Usowicz, Maria M; Krishnakumar, Shyam S; Hodge, James J L; Rothman, James E; Jepson, James E C.

Afiliação

Praschberger R; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
Lowe SA; School of Physiology, Pharmacology, and Neuroscience, University of Bristol, Bristol, UK.
Malintan NT; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
Giachello CNG; Faculty of Biology, Medicine, and Health, Division of Neuroscience & Experimental Psychology, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Patel N; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
Baines RA; Faculty of Biology, Medicine, and Health, Division of Neuroscience & Experimental Psychology, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Usowicz MM; School of Physiology, Pharmacology, and Neuroscience, University of Bristol, Bristol, UK.
Krishnakumar SS; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.
Hodge JJL; School of Physiology, Pharmacology, and Neuroscience, University of Bristol, Bristol, UK.
Rothman JE; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.
Jepson JEC; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK. Electronic address: j.jepson@ucl.ac.uk.

Cell Rep ; 21(1): 97-109, 2017 Oct 03.

Article em En | MEDLINE | ID: mdl-28978487

Assuntos

Dendritos/metabolismo; Mutação; Epilepsias Mioclônicas Progressivas/genética; Proteínas Qb-SNARE/genética; Via Secretória/genética; Sinapses/metabolismo; Animais; Dendritos/ultraestrutura; Drosophila melanogaster/genética; Drosophila melanogaster/metabolismo; Feminino; Fibroblastos/citologia; Fibroblastos/metabolismo; Expressão Gênica; Estudos de Associação Genética; Complexo de Golgi/metabolismo; Humanos; Masculino; Fusão de Membrana; Epilepsias Mioclônicas Progressivas/metabolismo; Epilepsias Mioclônicas Progressivas/patologia; Fenótipo; Cultura Primária de Células; Proteínas Qb-SNARE/metabolismo; Proteínas Recombinantes/genética; Proteínas Recombinantes/metabolismo; Saccharomyces cerevisiae/genética; Saccharomyces cerevisiae/metabolismo; Proteínas de Saccharomyces cerevisiae/genética; Proteínas de Saccharomyces cerevisiae/metabolismo; Sinapses/patologia; Adulto Jovem

Palavras-chave

GOSR2; GS27; Membrin; dendrite growth; progressive myoclonus epilepsy; synaptic integrity

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sinapses / Epilepsias Mioclônicas Progressivas / Dendritos / Proteínas Qb-SNARE / Via Secretória / Mutação Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Cell Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido

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