The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
about
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryCongenital cataracts-facial dysmorphism-neuropathyEssential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosisThe nucleotide exchange factors of Hsp70 molecular chaperonesBiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functionsOrchestration of secretory protein folding by ER chaperonesStructural analysis of the Sil1-Bip complex reveals the mechanism for Sil1 to function as a nucleotide-exchange factorAtaxia.Molecular chaperones of the Hsp110 family act as nucleotide exchange factors of Hsp70s.ER chaperones in mammalian development and human diseasesGBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical StudiesCharacterization of Zebrafish Models of Marinesco-Sjögren SyndromeEditing-defective tRNA synthetase causes protein misfolding and neurodegenerationMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Autosomal recessive cerebellar ataxias.A nationwide survey on Marinesco-Sjögren syndrome in Japan.Role of the CCAAT-binding protein NFY in SCA17 pathogenesisSperm mRNA transcripts are indicators of sub-chronic low dose testicular injury in the Fischer 344 ratAbsence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationCellular commitment in the developing cerebellumThe biology of proteostasis in aging and disease.Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretionMolecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.All in the family: atypical Hsp70 chaperones are conserved modulators of Hsp70 activity.C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.The impact of the unfolded protein response on human diseaseAn in vivo screen to identify candidate neurogenic genes in the developing Xenopus visual system.Role of the unfolded protein response, GRP78 and GRP94 in organ homeostasis.Endoplasmic reticulum stress.Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31Molecular chaperones as regulators of cell death.Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.The endoplasmic reticulum stress response and aging.SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortexLife and death of a BiP substrateSystematic review of autosomal recessive ataxias and proposal for a classification.An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP.
P2860
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P2860
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@ast
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@en
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@nl
type
label
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@ast
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@en
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@nl
prefLabel
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@ast
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@en
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
@en
P2093
Anders Paetau
Anna-Kaisa Anttonen
Bjarne Udd
Hannu Kalimo
Hannu Somer
Laura Waris
Lisbeth Tranebjaerg
Michel Koenig
Mikko Anttonen
Mirja Somer
P2860
P2888
P304
P3181
P356
10.1038/NG1677
P407
P577
2005-12-01T00:00:00Z