Cargos and genes: insights into vesicular transport from inherited human disease - Wikidata - wikimedia - TriplyDB

Cargos and genes: insights into vesicular transport from inherited human disease

Cargos and genes: insights into vesicular transport from inherited human disease

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Interaction of the coronavirus infectious bronchitis virus membrane protein with beta-actin and its implication in virion assembly and budding Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis Rab GTPases implicated in inherited and acquired disorders.Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy A functional null mutation of SCN1B in a patient with Dravet syndrome.Richard Scheller and Thomas Südhof receive the 2013 Albert Lasker Basic Medical Research Award.Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.The principles of teratology: are they still true?

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Cargos and genes: insights into vesicular transport from inherited human disease

http://www.wikidata.org/entity/Q24648345

description

2007 nî lūn-bûn

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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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Cargos and genes: insights into vesicular transport from inherited human disease

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JMG.2007.050294

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Journal of Medical Genetics

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Cargos and genes: insights into vesicular transport from inherited human disease

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Eamonn R Maher

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Paul Gissen

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A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

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545-555

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scholarly article

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10.1136/JMG.2007.050294

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17526798

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