Spinocerebellar ataxia
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Polyglutamine diseases
EL Bunting, J Hamilton, SJ Tabrizi - Current Opinion in Neurobiology, 2022 - Elsevier
Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders,
presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse …
presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse …
Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
Brain region-specific degeneration and somatic expansions of the mutant Huntingtin (mHTT)
CAG tract are key features of Huntington's disease (HD). However, the relationships among …
CAG tract are key features of Huntington's disease (HD). However, the relationships among …
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
R Mouro Pinto, L Arning, JV Giordano… - Human molecular …, 2020 - academic.oup.com
The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits somatic
expansion proposed to drive the rate of disease onset by eliciting a pathological process …
expansion proposed to drive the rate of disease onset by eliciting a pathological process …
Whole-genome landscape of adult T-cell leukemia/lymphoma
Adult T-cell leukemia/lymphoma (ATL) is an aggressive neoplasm immunophenotypically
resembling regulatory T cells, associated with human T-cell leukemia virus type-1. Here, we …
resembling regulatory T cells, associated with human T-cell leukemia virus type-1. Here, we …
[HTML][HTML] Antisense oligonucleotide–mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles
J Friedrich, HB Kordasiewicz, B O'Callaghan… - JCI insight, 2018 - ncbi.nlm.nih.gov
Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited ataxia caused by
expansion of a translated CAG repeat encoding a glutamine tract in the ataxin-1 (ATXN1) …
expansion of a translated CAG repeat encoding a glutamine tract in the ataxin-1 (ATXN1) …
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
Summary Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative
disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however …
disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however …
Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice
In Huntington's disease (HD), the uninterrupted CAG repeat length, but not the
polyglutamine length, predicts disease onset. However, the underlying pathobiology …
polyglutamine length, predicts disease onset. However, the underlying pathobiology …
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
Aberrant cerebellar circuitry in the spinocerebellar ataxias
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative
diseases that share convergent disease features. A common symptom of these diseases is …
diseases that share convergent disease features. A common symptom of these diseases is …