Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. - Wikidata - awgldk - TriplyDB

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

http://www.wikidata.org/entity/Q34466839

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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery Congenital cataracts-facial dysmorphism-neuropathy Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis The nucleotide exchange factors of Hsp70 molecular chaperones BiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functions Orchestration of secretory protein folding by ER chaperones Structural analysis of the Sil1-Bip complex reveals the mechanism for Sil1 to function as a nucleotide-exchange factor Molecular chaperones of the Hsp110 family act as nucleotide exchange factors of Hsp70s.ER chaperones in mammalian development and human diseases GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Hypergonadotropic 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.Hierarchical functional specificity of cytosolic heat shock protein 70 (Hsp70) nucleotide exchange factors in yeast.Gene expression analysis of Drosophilaa Manf mutants reveals perturbations in membrane traffic and major metabolic changes.Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration Cellular commitment in the developing cerebellum The biology of proteostasis in aging and disease.Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion 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.The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.An in vivo screen to identify candidate neurogenic genes in the developing Xenopus visual system.Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Neuropathology of Charcot-Marie-Tooth and related disorders.Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.Endoplasmic reticulum stress.A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells.Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31 Molecular chaperones as regulators of cell death.Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.The role of molecular chaperones in human misfolding diseases.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 cortex Life and death of a BiP substrate

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P2860

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

http://www.wikidata.org/entity/Q34466839

description

2005 nî lūn-bûn

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Mutations in SIL1 cause Marine ...... ia with cataract and myopathy.

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Mutations in SIL1 cause Marine ...... ia with cataract and myopathy.

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Mutations in SIL1 cause Marine ...... ia with cataract and myopathy.

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Nature Genetics

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Mutations in SIL1 cause Marine ...... ia with cataract and myopathy.

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Astrid Blaschek

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Carsten Bergmann

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Claudia Stendel

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Francesco Muntoni

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Francis Renault

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Friedrich Ebinger

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Inga Harting

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J Michael Schröder

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Janine Smith

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Joachim Weis

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P2860

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

ORP150/HSP12A regulates Purkinje cell survival: a role for endoplasmic reticulum stress in cerebellar development

BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Protein translocons: multifunctional mediators of protein translocation across membranes.

Coupling endoplasmic reticulum stress to the cell death program.

The molecular mechanisms underlying BiP-mediated gating of the Sec61 translocon of the endoplasmic reticulum

Sls1p, an endoplasmic reticulum component, is involved in the protein translocation process in the yeast Yarrowia lipolytica.

Targeted disruption of ATF4 discloses its essential role in the formation of eye lens fibres.

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12

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37

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Haluk Topaloglu

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7485420

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16282977

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