Associated Papers
E3 ubiquitin ligase CHIP facilitates cAMP and cGMP signalling cross-talk by polyubiquitinating PDE9A.
Hao X et al.
The Embo Journal, 2025
CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination.
Sharma R et al.
The Febs Journal, 2023
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Durmaz Çelik N et al.
Bmc Medical Genomics, 2023
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
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
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM et al.
Journal of Neurology, 2021
CHIP promotes Wnt signaling and regulates Arc stability by recruiting and polyubiquitinating LEF1 or Arc.
Liu Y et al.
Cell Death Discovery, 2021
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
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
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
Mol MO et al.
Neurology. Genetics, 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
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
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
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE.
Schisler JC et al.
African Journal of Cellular Pathology, 2016
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
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K et al.
Orphanet Journal of Rare Diseases, 2014
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
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
Shi CH et al.
Human Molecular Genetics, 2014
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014