Associated Papers
Phosphorylation-State Modulated Binding of HSP70: Structural Insights and Compensatory Protein Engineering.
Stewart M et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination.
Sharma R et al.
The Febs Journal, 2023
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Saito R et al.
Acta Neuropathologica Communications, 2022
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Pakdaman Y et al.
International Journal of Molecular Sciences, 2021
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
Mylvaganam S et al.
Current Neuropharmacology, 2021
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Hsc70/Stub1 promotes the removal of individual oxidatively stressed peroxisomes.
Chen BH et al.
Nature Communications, 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
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
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
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K et al.
Orphanet Journal of Rare Diseases, 2014