Associated Papers
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Saito R et al.
Acta Neuropathologica Communications, 2022
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
Mylvaganam S et al.
Current Neuropharmacology, 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
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M et al.
European Journal of Neurology, 2020
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D et al.
Neurology, 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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
Shi Y et al.
Plos One, 2013
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