A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
about
DNA testing in neurologic diseasesOrchestration of secretory protein folding by ER chaperonesMissense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breedCanine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24Genetics of Hereditary Ataxia in Scottish Terriers.SEL1L regulates adhesion, proliferation and secretion of insulin by affecting integrin signaling.PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD.SEL1L SNP rs12435998, a predictor of glioblastoma survival and response to radio-chemotherapy.Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breedA Bystander Mechanism Explains the Specific Phenotype of a Broadly Expressed Misfolded Protein.Adeno-associated virus serotypes 9 and rh10 mediate strong neuronal transduction of the dog brain.Sel1L is indispensable for mammalian endoplasmic reticulum-associated degradation, endoplasmic reticulum homeostasis, and survival.Endoplasmic reticulum quality control in cancer: Friend or foe.mSEL-1L deficiency affects vasculogenesis and neural stem cell lineage commitment.The canine era: the rise of a biomedical model.Founder representation and effective population size in old versus young breeds-genetic diversity of Finnish and Nordic Spitz.Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing.Evaluation of artificial selection in Standard Poodles using whole-genome sequencing.Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.Canine models of human rare disordersFamilial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.Late-onset cerebellar abiotrophy in a Labrador Retriever.Exclusion of known gene loci for cerebellar abiotrophy in the Australian Working Kelpie.Origins and wanderings of the Finnish hunting spitzes.
P2860
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P2860
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
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2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@ast
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en-gb
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@nl
type
label
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@ast
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en-gb
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@nl
altLabel
A SEL1L Mutation Links a Canin ...... n Degradation (ERAD) Machinery
@en
prefLabel
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@ast
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en-gb
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@nl
P2093
P2860
P3181
P1433
P1476
A SEL1L mutation links a canin ...... n degradation (ERAD) machinery
@en
P2093
Antti Sukura
Eija H Seppälä
Esko Suhonen
Janis Jeserevics
Kaisa Kyöstilä
Pernilla Syrjä
Sigitas Cizinauskas
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1002759
P407
P50
P577
2012-01-01T00:00:00Z