Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
about
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.Recoverin depletion accelerates cone photoresponse recoveryRegulatory-auxiliary subunits of CLC chloride channel-transport proteins.MLC1 protein: a likely link between leukodystrophies and brain channelopathies.Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse modelDepolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.Usherin defects lead to early-onset retinal dysfunction in zebrafishC2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.
P2860
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P2860
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
description
2014 nî lūn-bûn
@nan
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
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Megalencephalic leukoencephalo ...... GLIALCAM from fish to humans.
@en
type
label
Megalencephalic leukoencephalo ...... GLIALCAM from fish to humans.
@en
prefLabel
Megalencephalic leukoencephalo ...... GLIALCAM from fish to humans.
@en
P2093
P2860
P50
P356
P1476
Megalencephalic leukoencephalo ...... f GLIALCAM from fish to humans
@en
P2093
Carla Pérez-Rius
Jingjing Zang
Laura Minieri
Pedro De La Villa
Stefano Ferroni
Sònia Sirisi
Tania López-Hernández
Upasana Roy
Virginia Nunes
P2860
P304
P356
10.1093/HMG/DDU231
P50
P577
2014-05-12T00:00:00Z