Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
about
Inter-organelle ER-endolysosomal contact sites in metabolism and disease across evolutionFunction Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishA molecular code for endosomal recycling of phosphorylated cargos by the SNX27-retromer complexMdm1/Snx13 is a novel ER-endolysosomal interorganelle tethering proteinBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics.Genome-wide transcriptome analysis of hypothalamus in rats with inherited stress-induced arterial hypertension.A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsGenome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breedEPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Systematic review of autosomal recessive ataxias and proposal for a classification.Studying Autophagy in Zebrafish.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.New insights into the functions of PtdIns(3,5)P2 in the pathogenisis of neurodegenerative disorders.Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.Lysosomal Calcium in Neurodegeneration.Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Discovery and Roles of ER-Endolysosomal Contact Sites in Disease.Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
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P2860
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
description
2015 nî lūn-bûn
@nan
2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@ast
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en-gb
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@nl
type
label
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@ast
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en-gb
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@nl
prefLabel
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@ast
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en-gb
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Biallelic mutations in SNX14 c ...... some-autophagosome dysfunction
@en
P2093
Abdelrahim A Sadek
Ali Dursun
Amera El Badawy
Amira Masri
Antoinette Bernabe Gelot
Basak Rosti
Eric M Scott
Esra Dikoglu
Faezeh Mojahedi
Iman G Mahmoud
P2860
P2888
P304
P3181
P356
10.1038/NG.3256
P407
P50
P5008
P577
2015-05-01T00:00:00Z
P5875
P6179
1020013801