Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.
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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryBiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functionsGenetic, transcriptomic, and epigenetic studies of HIV-associated neurocognitive disorderOrchestration of secretory protein folding by ER chaperonesA deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulationElevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegenerationCharacterization of Zebrafish Models of Marinesco-Sjögren SyndromeDiscovering implicit entity relation with the gene-citation-gene networkMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentAntistress Effects of the Ethanolic Extract from Cymbopogon schoenanthus Growing Wild in TunisiaExpression and function of HSP110 family in mouse testis after vasectomySperm 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 cerebellumLoss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degenerationSil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretionThe impact of the unfolded protein response on human diseaseSwa2, the yeast homolog of mammalian auxilin, is specifically required for the propagation of the prion variant [URE3-1].A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultNeurodevelopmental alcohol exposure elicits long-term changes to gene expression that alter distinct molecular pathways dependent on timing of exposure.Transcriptome analysis of HIV-infected peripheral blood monocytes: gene transcripts and networks associated with neurocognitive functioning.Life and death of a BiP substrateGenetics of childhood-onset inflammatory bowel disease.Protein transport into the human ER and related diseases, Sec61-channelopathies.The Dietary Components Carnosic Acid and Carnosol as Neuroprotective Agents: a Mechanistic View.Process-relevant concentrations of the leachable bDtBPP impact negatively on CHO cell production characteristics.Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.A nucleotide exchange factor promotes endoplasmic reticulum-to-cytosol membrane penetration of the nonenveloped virus simian virus 40.Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.Down regulation effect of Rosmarinus officinalis polyphenols on cellular stress proteins in rat pheochromocytoma PC12 cells.In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome.Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.Mutations in TGM6 induce the unfolded protein response in SCA35.SIL1 Rescued Bip Elevation-Related Tau Hyperphosphorylation in ER Stress.Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level.Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells
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Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@en
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@nl
type
label
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@en
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@nl
prefLabel
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@en
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@nl
P2093
P2860
P356
P1476
Alteration of the unfolded pro ...... of Marinesco-Sjögren syndrome.
@en
P2093
Christine Rosales
Kevin Seburn
Susan L Ackerman
P2860
P356
10.1093/HMG/DDP464
P577
2010-01-01T00:00:00Z