Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
A dimer-monomer switch controls CHIP-dependent substrate ubiquitylation and processing.
Balaji V et al.
Molecular Cell, 2022
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM et al.
Journal of Neurology, 2021
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
Mylvaganam S et al.
Current Neuropharmacology, 2021
Hsc70/Stub1 promotes the removal of individual oxidatively stressed peroxisomes.
Chen BH et al.
Nature Communications, 2020
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.
Schuster S et al.
Disease Models & Mechanisms, 2020
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
Changes in protein function underlie the disease spectrum in patients with CHIP mutations.
Madrigal SC et al.
The Journal of Biological Chemistry, 2019
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
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
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2014
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014