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 …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Polyglutamine repeats in neurodegenerative diseases
AP Lieberman, VG Shakkottai… - Annual Review of …, 2019 - annualreviews.org
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …
Spinocerebellar ataxias: prospects and challenges for therapy development
T Ashizawa, G Öz, HL Paulson - Nature Reviews Neurology, 2018 - nature.com
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
Nicotinamide pathway-dependent Sirt1 activation restores calcium homeostasis to achieve neuroprotection in spinocerebellar ataxia type 7
CA Stoyas, DD Bushart, PM Switonski, JM Ward… - Neuron, 2020 - cell.com
Summary Sirtuin 1 (Sirt1) is a NAD+-dependent deacetylase capable of countering age-
related neurodegeneration, but the basis of Sirt1 neuroprotection remains elusive …
related neurodegeneration, but the basis of Sirt1 neuroprotection remains elusive …
Spinocerebellar ataxia clinical trials: opportunities and challenges
SM Brooker, CR Edamakanti… - Annals of clinical …, 2021 - Wiley Online Library
The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …
A chlorzoxazone–folic acid combination improves cognitive affective decline in SCA2-58Q mice
KS Marinina, IB Bezprozvanny, PA Egorova - Scientific reports, 2023 - nature.com
Abstract Spinocerebellar ataxia type 2 (SCA2) is a polyglutamine disorder caused by a
pathological expansion of CAG repeats in ATXN2 gene. SCA2 is accompanied by cerebellar …
pathological expansion of CAG repeats in ATXN2 gene. SCA2 is accompanied by cerebellar …
Current and emerging treatment modalities for spinocerebellar ataxias
SD Ghanekar, SH Kuo, JS Staffetti… - Expert review of …, 2022 - Taylor & Francis
Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases
that dramatically affect the lives of affected individuals and their families. Despite having a …
that dramatically affect the lives of affected individuals and their families. Despite having a …
Polyglutamine disorders: Pathogenesis and potential drug interventions
S Tandon, P Aggarwal, S Sarkar - Life Sciences, 2024 - Elsevier
Polyglutamine/poly (Q) diseases are a group nine hereditary neurodegenerative disorders
caused due to abnormally expanded stretches of CAG trinucleotide in functionally distinct …
caused due to abnormally expanded stretches of CAG trinucleotide in functionally distinct …
[HTML][HTML] Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view
Recent advances in understanding dominant spinocerebellar ataxias from clinical and
genetic points of view - PMC Back to Top Skip to main content NIH NLM Logo Access keys …
genetic points of view - PMC Back to Top Skip to main content NIH NLM Logo Access keys …