Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
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Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degenerationComparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaScyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde trafficGerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginScyl1 regulates Golgi morphologyCrystal structure of Cex1p reveals the mechanism of tRNA trafficking between nucleus and cytoplasmLoss of yata, a novel gene regulating the subcellular localization of APPL, induces deterioration of neural tissues and lifespan shortening.A genome-wide association study of optic disc parameters.Spinal muscular atrophy: new and emerging insights from model miceCharacterization of the brain injury, neurobehavioral profiles, and histopathology in a rat model of cerebellar hemorrhage.The golgin coiled-coil proteins of the Golgi apparatus.The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressorDisruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.SCYL1 does not regulate REST expression and turnoverEvaluation of the hematoma consequences, neurobehavioral profiles, and histopathology in a rat model of pontine hemorrhage.The ins and outs of nuclear re-export of retrogradely transported tRNAs in Saccharomyces cerevisiae.COPII and COPI traffic at the ER-Golgi interface.Bone marrow transplantation in hindlimb muscles of motoneuron degenerative mice reduces neuronal death and improves motor function.Comparative effects between bone marrow and mesenchymal stem cell transplantation in GDNF expression and motor function recovery in a motorneuron degenerative mouse model.Comparative analysis of human and bovine protein kinases reveals unique relationship and functional diversityUtp9p facilitates Msn5p-mediated nuclear reexport of retrograded tRNAs in Saccharomyces cerevisiae.Scyl1 facilitates nuclear tRNA export in mammalian cells by acting at the nuclear pore complex.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).Suppression of the synaptic localization of a subset of proteins including APP partially ameliorates phenotypes of the Drosophila Alzheimer's disease model
P2860
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P2860
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutation in the Scyl1 gene enc ...... nocerebellar neurodegeneration
@nl
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@ast
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@en
type
label
Mutation in the Scyl1 gene enc ...... nocerebellar neurodegeneration
@nl
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@ast
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@en
prefLabel
Mutation in the Scyl1 gene enc ...... nocerebellar neurodegeneration
@nl
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@ast
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutation in the Scyl1 gene enc ...... ocerebellar neurodegeneration.
@en
P2093
Cornelia Kraus
Felicitas Oberndorfer
Harald Höger
Lúcia Inês Macedo-Souza
Manuela Branka
Markus Müller
Reginald E Bittner
Sonja Bingemann
Sonja Hochmeister
Wolfgang M Schmidt
P2860
P304
P356
10.1038/SJ.EMBOR.7401001
P407
P577
2007-06-15T00:00:00Z