Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome.Methods: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations. In-depth phenotyping by clinical evaluation and neuroimaging was performed in mutation carriers.Results: We identified four novel STUB1 mutations in three affected subjects from two index families (frequency 2/87 = 2...
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ata...
International audienceBackground: STUB1 has been first associated with autosomal recessive (SCAR16, ...
International audienceBackground: VPS13D is a large ubiquitin-binding protein playing an essential r...
Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostas...
Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia ...
International audiencePurpose: Pathogenic variants in STUB1 were initially described in autosomal re...
Case vignettes. Detailed medical history and clinical examination data of the three STUB1 patients. ...
Background A subset of hereditary cerebellar ataxias is inherited as autosomal reces...
Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebella...
Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (AR...
Cerebellar ataxia (CA) is a disorder associated with impairments in balance, coordination, and gait ...
Recently, whole exome sequencing linked mutations in the E3 ligase RNF216 to the pathogenesis of the...
[[abstract]]BACKGROUND: Heterozygous pathogenic variants in STUB1 are implicated in autosomal domina...
The C-terminus of Hsc70 interacting protein (CHIP) is a dimeric co-chaperone and E3 ubiquitin ligase...
Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP...
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ata...
International audienceBackground: STUB1 has been first associated with autosomal recessive (SCAR16, ...
International audienceBackground: VPS13D is a large ubiquitin-binding protein playing an essential r...
Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostas...
Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia ...
International audiencePurpose: Pathogenic variants in STUB1 were initially described in autosomal re...
Case vignettes. Detailed medical history and clinical examination data of the three STUB1 patients. ...
Background A subset of hereditary cerebellar ataxias is inherited as autosomal reces...
Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebella...
Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (AR...
Cerebellar ataxia (CA) is a disorder associated with impairments in balance, coordination, and gait ...
Recently, whole exome sequencing linked mutations in the E3 ligase RNF216 to the pathogenesis of the...
[[abstract]]BACKGROUND: Heterozygous pathogenic variants in STUB1 are implicated in autosomal domina...
The C-terminus of Hsc70 interacting protein (CHIP) is a dimeric co-chaperone and E3 ubiquitin ligase...
Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP...
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ata...
International audienceBackground: STUB1 has been first associated with autosomal recessive (SCAR16, ...
International audienceBackground: VPS13D is a large ubiquitin-binding protein playing an essential r...