VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
about
EARP is a multisubunit tethering complex involved in endocytic recyclingVPS54 and the wobbler mouseIn sickness and in health: the role of TRAPP and associated proteins in diseaseThe EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core VesiclesThe GARP complex is required for cellular sphingolipid homeostasis.TSSC1 is novel component of the endosomal retrieval machineryPost-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transportMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Proteomic and phosphoproteomic analyses of yeast reveal the global cellular response to sphingolipid depletion.Taming the sphinx: Mechanisms of cellular sphingolipid homeostasis.Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.STIL balancing primary microcephaly and cancer.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
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P2860
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
description
2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@ast
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@en
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2
@nl
type
label
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@ast
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@en
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2
@nl
prefLabel
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@ast
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@en
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2
@nl
P2093
P2860
P1476
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
@en
P2093
Barak Markus
Bruria Ben-Zeev
Hagit Flusser
Idan Cohen
Miora Feinstein
Ohad S Birk
Orly Agamy
Rotem Kadir
Sara Sivan
P2860
P304
P356
10.1136/JMEDGENET-2013-101823
P407
P577
2014-02-27T00:00:00Z