scholarly article | Q13442814 |
P50 | author | Jonathan Schisler | Q43080201 |
P2093 | author name string | Cam Patterson | |
Sarah M Ronnebaum | |||
P2860 | cites work | Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts | Q21202841 |
An integrated map of genetic variation from 1,092 human genomes | Q22122153 | ||
The co-chaperone CHIP regulates protein triage decisions mediated by heat-shock proteins | Q24290709 | ||
CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation | Q24296740 | ||
CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity | Q24302505 | ||
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia | Q24600027 | ||
Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
Exome sequencing reveals VCP mutations as a cause of familial ALS | Q24631513 | ||
CHIP-Hsc70 Complex Ubiquitinates Phosphorylated Tau and Enhances Cell Survival | Q28183470 | ||
Ubiquitin, cellular inclusions and their role in neurodegeneration | Q77768842 | ||
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations | Q87652036 | ||
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations | Q88076808 | ||
Recent Advances in the Genetics of Cerebellar Ataxias | Q38004919 | ||
The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics | Q38018008 | ||
Long noncoding RNAs in development and disease of the central nervous system | Q38096710 | ||
The ubiquitin ligase CHIP prevents SirT6 degradation through noncanonical ubiquitination | Q39094871 | ||
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 degradation | Q39988391 | ||
The co-chaperone carboxyl terminus of Hsp70-interacting protein (CHIP) mediates alpha-synuclein degradation decisions between proteasomal and lysosomal pathways | Q40432113 | ||
Co-chaperone CHIP associates with expanded polyglutamine protein and promotes their degradation by proteasomes. | Q40467483 | ||
Exome sequencing as a diagnostic tool for pediatric-onset ataxia | Q43054775 | ||
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 sclerosis | Q47597072 | ||
The ubiquitin pathway in Parkinson's disease | Q48015939 | ||
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 | Q28235526 | ||
Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse | Q28512183 | ||
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia | Q28535598 | ||
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP | Q28593538 | ||
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination | Q28685920 | ||
Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
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 CHIP | Q30418755 | ||
Engineering a ubiquitin ligase reveals conformational flexibility required for ubiquitin transfer | Q30492047 | ||
Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice | Q30764264 | ||
The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity | Q33292521 | ||
The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias | Q33307876 | ||
Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIP | Q33470287 | ||
Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction | Q33667738 | ||
Cell death in polyglutamine diseases | Q33992391 | ||
Beyond the Qs in the polyglutamine diseases | Q34228238 | ||
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism | Q34236650 | ||
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration | Q34325033 | ||
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine | Q34374148 | ||
Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory | Q34559237 | ||
CHIP activates HSF1 and confers protection against apoptosis and cellular stress | Q36266926 | ||
Molecular pathogenesis of spinocerebellar ataxias. | Q36448937 | ||
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome | Q36451459 | ||
CHIP deficiency decreases longevity, with accelerated aging phenotypes accompanied by altered protein quality control | Q36710789 | ||
Interpreting noncoding genetic variation in complex traits and human disease | Q36988784 | ||
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome | Q37030724 | ||
CHIP protects against cardiac pressure overload through regulation of AMPK | Q37052961 | ||
CHIP regulates leucine-rich repeat kinase-2 ubiquitination, degradation, and toxicity | Q37115256 | ||
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 program | Q37343994 | ||
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 spectrum | Q37477352 | ||
A novel locus for episodic ataxia:UBR4 the likely candidate | Q37636726 | ||
P275 | copyright license | Creative Commons Attribution 3.0 Unported | Q14947546 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | ubiquitin-proteasome system | Q47175589 |
P304 | page(s) | 14018 | |
P577 | publication date | 2014-10-23 | |
P1433 | published in | Human Genome Variation | Q27726811 |
P1476 | title | Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias | |
P478 | volume | 1 |
Q28078724 | A Decade of Boon or Burden: What Has the CHIP Ever Done for Cellular Protein Quality Control Mechanism Implicated in Neurodegeneration and Aging? |
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Q47099867 | Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease |
Q58730541 | Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16 |
Q38415567 | Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing |
Q30400979 | In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins |
Q94365315 | SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE |
Q92493288 | STUB1 suppresseses tumorigenesis and chemoresistance through antagonizing YAP1 signaling |
Q28115151 | UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia |
Q42515496 | UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. |
Q39390991 | Ubiquitin Ligases and Posttranslational Regulation of Energy in the Heart: The Hand that Feeds |
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