Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations
about
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisThe puzzle of TRPV4 channelopathies.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.The increased activity of TRPV4 channel in the astrocytes of the adult rat hippocampus after cerebral hypoxia/ischemia.TRPV4 and AQP4 Channels Synergistically Regulate Cell Volume and Calcium Homeostasis in Retinal Müller Glia.Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorderGenetically encoded calcium indicators and astrocyte calcium microdomains.ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.MLC1 protein: a likely link between leukodystrophies and brain channelopathies.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.Glial Na(+) -dependent ion transporters in pathophysiological conditions.Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse modelInsights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.Astrocyte-mediated infantile-onset leukoencephalopathy mouse model.Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
P2860
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P2860
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Megalencephalic leukoencephalo ...... tion by pathological mutations
@ast
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en-gb
Megalencephalic leukoencephalo ...... tion by pathological mutations
@nl
type
label
Megalencephalic leukoencephalo ...... tion by pathological mutations
@ast
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en-gb
Megalencephalic leukoencephalo ...... tion by pathological mutations
@nl
prefLabel
Megalencephalic leukoencephalo ...... tion by pathological mutations
@ast
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en-gb
Megalencephalic leukoencephalo ...... tion by pathological mutations
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Megalencephalic leukoencephalo ...... tion by pathological mutations
@en
P2093
Angela Lanciotti
Gianfranco Macchia
Maria S Brignone
Tamara C Petrucci
P2860
P304
P3181
P356
10.1093/HMG/DDS032
P407
P50
P577
2012-05-15T00:00:00Z