Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

(2021) Yasaman Pakdaman et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population

(2020) Alessia Mongelli et al.   NEUROLOGICAL SCIENCES

Spinocerebellar ataxia type 48: last but not least

(2020) Giovanna De Michele et al.   NEUROLOGICAL SCIENCES

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

(2020) Thomas Roux et al.   GENETICS IN MEDICINE

CHIP as a therapeutic target for neurological diseases

(2020) Shuo Zhang et al.   Cell Death & Disease

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

(2019) Giovanna De Michele et al.   PARKINSONISM & RELATED DISORDERS

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

(2019) Sarah L. Gardiner et al.   JAMA Neurology

The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families

(2019) M Lieto et al.   EUROPEAN JOURNAL OF NEUROLOGY

Digenic inheritance and genetic modifiers

(2018) C. Deltas   CLINICAL GENETICS

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

(2018) David Genis et al.   NEUROLOGY

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

(2018) Suran Nethisinghe et al.   Frontiers in Cellular Neuroscience

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

(2017) Stefanie Nicole Hayer et al.   Orphanet Journal of Rare Diseases

The Pathogenic Role of Low Range Repeats in SCA17

(2015) Jung Hwan Shin et al.   PLoS One

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

(2013) Yuting Shi et al.   PLoS One

Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?

(2011) L. Tremolizzo et al.   NEUROLOGICAL SCIENCES

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions

(2010) RR Hire et al.   CLINICAL GENETICS

Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene

(2010) D. Nolte et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

(2009) J-Y Kim et al.   NEUROLOGY

CHIP Targets Toxic α-Synuclein Oligomers for Degradation

(2008) Julie E. Tetzlaff et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

(2008) Aislinn J. Williams et al.   NEUROBIOLOGY OF DISEASE