Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

DR Scoles, P Meera, MD Schneider, S Paul… - Nature, 2017 - nature.com
There are no disease-modifying treatments for adult human neurodegenerative diseases.
Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 …

Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans

JF Morley, HR Brignull, JJ Weyers… - Proceedings of the …, 2002 - National Acad Sciences
Studies of the mutant gene in Huntington's disease, and for eight related neurodegenerative
disorders, have identified polyglutamine (polyQ) expansions as a basis for cellular toxicity …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

[HTML][HTML] Mechanisms of protein toxicity in neurodegenerative diseases

CG Chung, H Lee, SB Lee - Cellular and Molecular Life Sciences, 2018 - Springer
Protein toxicity can be defined as all the pathological changes that ensue from
accumulation, mis-localization, and/or multimerization of disease-specific proteins. Most …

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

K Nakamura, SY Jeong, T Uchihara… - Human molecular …, 2001 - academic.oup.com
Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have
yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese …

Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells

W Yang, JR Dunlap, RB Andrews… - Human molecular …, 2002 - academic.oup.com
A number of observations point to the aggregation of expanded polyglutamine [poly (Q)]-
containing proteins as playing a central role in the etiology of Huntington's disease (HD) and …

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2

J Liu, TS Tang, H Tu, O Nelson, E Herndon… - Journal of …, 2009 - Soc Neuroscience
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited,
neurodegenerative disease caused by an expansion of polyglutamine tracts in the cytosolic …