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Article

Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.

PLoS genetics - 1 Sept 2018

Shi Chang-He, Rubel Carrie, Soss Sarah E, Sanchez-Hodge Rebekah, Zhang Shuo, Madrigal Sabrina C, Ravi Saranya, McDonough Holly, Page Richard C, Chazin Walter J, Patterson Cam, Mao Cheng-Yuan, Willis Monte S, Luo Hai-Yang, Li Yu-Sheng, Stevens Donte A, Tang Mi-Bo, Du Pan, Wang Yao-He, Hu Zheng-Wei, Xu Yu-Ming, Schisler Jonathan C

Abstract excerpt

CHIP (carboxyl terminus of heat shock 70-interacting protein) has long been recognized as an active member of the cellular protein quality control system given the ability of CHIP to function as both a co-chaperone and ubiquitin ligase. We discovered a genetic disease, now known as spinocerebellar autosomal recessive 16 (SCAR16), resulting from a coding mutation that caused a loss of CHIP ubiquitin ligase...

Read the complete abstract on PubMed

Topics

Animals
Behavior, Animal
CRISPR-Cas Systems
Cognition

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Disease Models, Animal

Female

Humans

Male

Mice

Mice, Inbred C57BL

Models, Molecular

Motor Activity

Mutagenesis, Site-Directed

Phenotype

Point Mutation

Protein Domains

Protein Multimerization

Rats

Source

Open in PubMed Open full text

Identifiers

PMID: 30222779
DOI: 10.1371/journal.pgen.1007664
PMCID: PMC6160236

Provenance

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Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.PMID 30222779Read ↗

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