Associated Papers
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Saito R et al.
Acta Neuropathologica Communications, 2022
A dimer-monomer switch controls CHIP-dependent substrate ubiquitylation and processing.
Balaji V et al.
Molecular Cell, 2022
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
Mylvaganam S et al.
Current Neuropharmacology, 2021
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Pakdaman Y et al.
Frontiers in Molecular Neuroscience, 2021
Spinocerebellar ataxia type 48: last but not least.
De Michele G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
Chen DH et al.
Neurology. Genetics, 2020
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M et al.
European Journal of Neurology, 2020
Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.
Shi CH et al.
Plos Genetics, 2018
Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.
Kanack AJ et al.
The Journal of Biological Chemistry, 2018
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman Y et al.
Bioscience Reports, 2017
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
Bettencourt C et al.
Cerebellum (london, England), 2015
Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.
Casarejos MJ et al.
Plos One, 2014
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