Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias

scientific article published on 23 October 2014

Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/HGV.2014.18
P932PMC publication ID4785523
P698PubMed publication ID27081508
P5875ResearchGate publication ID287400642

P50authorJonathan SchislerQ43080201
P2093author name stringCam Patterson
Sarah M Ronnebaum
P2860cites workPhenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsQ21202841
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The co-chaperone CHIP regulates protein triage decisions mediated by heat-shock proteinsQ24290709
CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradationQ24296740
CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activityQ24302505
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Exome sequencing identifies the cause of a mendelian disorderQ24607742
Exome sequencing reveals VCP mutations as a cause of familial ALSQ24631513
CHIP-Hsc70 Complex Ubiquitinates Phosphorylated Tau and Enhances Cell SurvivalQ28183470
Ubiquitin, cellular inclusions and their role in neurodegenerationQ77768842
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutationsQ87652036
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutationsQ88076808
Recent Advances in the Genetics of Cerebellar AtaxiasQ38004919
The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnosticsQ38018008
Long noncoding RNAs in development and disease of the central nervous systemQ38096710
The ubiquitin ligase CHIP prevents SirT6 degradation through noncanonical ubiquitinationQ39094871
Overexpression of the cochaperone CHIP enhances Hsp70-dependent folding activity in mammalian cells.Q39777855
The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.Q39965496
CHIP targets toxic alpha-Synuclein oligomers for degradationQ39988391
The co-chaperone carboxyl terminus of Hsp70-interacting protein (CHIP) mediates alpha-synuclein degradation decisions between proteasomal and lysosomal pathwaysQ40432113
Co-chaperone CHIP associates with expanded polyglutamine protein and promotes their degradation by proteasomes.Q40467483
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaQ43054775
CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo.Q45298680
Dimerization of the human E3 ligase CHIP via a coiled-coil domain is essential for its activity.Q47070627
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosisQ47597072
The ubiquitin pathway in Parkinson's diseaseQ48015939
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Gracile axonal dystrophy (GAD), a new neurological mutant in the mouseQ28512183
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaQ28535598
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIPQ28593538
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitinationQ28685920
Exome sequencing as a tool for Mendelian disease gene discoveryQ29615382
Chaperone functions of the E3 ubiquitin ligase CHIP.Q30362083
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIPQ30418755
Engineering a ubiquitin ligase reveals conformational flexibility required for ubiquitin transferQ30492047
Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad miceQ30764264
The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activityQ33292521
The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxiasQ33307876
Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIPQ33470287
Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junctionQ33667738
Cell death in polyglutamine diseasesQ33992391
Beyond the Qs in the polyglutamine diseasesQ34228238
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autismQ34236650
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationQ34325033
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineQ34374148
Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memoryQ34559237
CHIP activates HSF1 and confers protection against apoptosis and cellular stressQ36266926
Molecular pathogenesis of spinocerebellar ataxias.Q36448937
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeQ36451459
CHIP deficiency decreases longevity, with accelerated aging phenotypes accompanied by altered protein quality controlQ36710789
Interpreting noncoding genetic variation in complex traits and human diseaseQ36988784
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndromeQ37030724
CHIP protects against cardiac pressure overload through regulation of AMPKQ37052961
CHIP regulates leucine-rich repeat kinase-2 ubiquitination, degradation, and toxicityQ37115256
In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis.Q37142961
Stress-dependent Daxx-CHIP interaction suppresses the p53 apoptotic programQ37343994
Ubiquitination regulates the neuroprotective function of the deubiquitinase ataxin-3 in vivo.Q37348895
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumQ37477352
A novel locus for episodic ataxia:UBR4 the likely candidateQ37636726
P275copyright licenseCreative Commons Attribution 3.0 UnportedQ14947546
P6216copyright statuscopyrightedQ50423863
P921main subjectubiquitin-proteasome systemQ47175589
P304page(s)14018
P577publication date2014-10-23
P1433published inHuman Genome VariationQ27726811
P1476titleEmerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias
P478volume1

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cites work (P2860)
Q28078724A Decade of Boon or Burden: What Has the CHIP Ever Done for Cellular Protein Quality Control Mechanism Implicated in Neurodegeneration and Aging?
Q57016624Adverse Effects of Fenofibrate in Mice Deficient in the Protein Quality Control Regulator, CHIP
Q47099867Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease
Q58730541Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16
Q38415567Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing
Q30400979In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Q94365315SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE
Q92493288STUB1 suppresseses tumorigenesis and chemoresistance through antagonizing YAP1 signaling
Q28115151UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
Q42515496UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Q39390991Ubiquitin Ligases and Posttranslational Regulation of Energy in the Heart: The Hand that Feeds

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