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 …

Gene therapy for polyglutamine spinocerebellar ataxias: advances, challenges, and perspectives

Y Vázquez‐Mojena, K León‐Arcia… - Movement …, 2021 - Wiley Online Library
Polyglutamine spinocerebellar ataxias (SCAs) comprise a heterogeneous group of six
autosomal dominant ataxias caused by cytosine–adenine–guanine repeat expansions in …

Consensus paper: strengths and weaknesses of animal models of spinocerebellar ataxias and their clinical implications

J Cendelin, M Cvetanovic, M Gandelman, H Hirai… - The Cerebellum, 2022 - Springer
Spinocerebellar ataxias (SCAs) represent a large group of hereditary degenerative diseases
of the nervous system, in particular the cerebellum, and other systems that manifest with a …

SCA7 mouse cerebellar pathology reveals preferential downregulation of key Purkinje cell-identity genes and shared disease signature with SCA1 and SCA2

A Niewiadomska-Cimicka, F Doussau… - Journal of …, 2021 - Soc Neuroscience
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease mainly
characterized by motor incoordination because of progressive cerebellar degeneration …

The molecular mechanisms of spinocerebellar ataxias for DNA repeat expansion in disease

M Kumar, N Tyagi, M Faruq - Emerging Topics in Life Sciences, 2023 - portlandpress.com
Spinocerebellar ataxias (SCAs) are a heterogenous group of neurodegenerative disorders
which commonly inherited in an autosomal dominant manner. They cause muscle …

Glipizide ameliorates human poly (Q) mediated neurotoxicity by upregulating insulin signalling in Drosophila disease models

S Tandon, S Sarkar - Biochemical and Biophysical Research …, 2023 - Elsevier
Increasing reports suggest insulin signalling pathway as a putative drug target against
polyglutamine [poly (Q)] disorders, such as Huntington's disease (HD), Spinocerebellar …

Spinocerebellar ataxia type 2

SM Pulst - Cerebellum as a CNS Hub, 2021 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited
neurodegenerative disease caused by CAG repeat expansion in the first coding exon of the …

Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy

A Niewiadomska-Cimicka, A Hache, S Le Gras… - Journal of Biomedical …, 2022 - Springer
Background Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder that
primarily affects the cerebellum and retina. SCA7 is caused by a polyglutamine expansion in …

Adeno-associated viruses for modeling neurological diseases in animals: achievements and prospects

E Lunev, A Karan, T Egorova, M Bardina - Biomedicines, 2022 - mdpi.com
Adeno-associated virus (AAV) vectors have become an attractive tool for efficient gene
transfer into animal tissues. Extensively studied as the vehicles for therapeutic constructs in …

New perspectives of gene therapy on polyglutamine spinocerebellar ataxias: from molecular targets to novel nanovectors

FV Borbolla-Jiménez, ML Del Prado-Audelo… - Pharmaceutics, 2021 - mdpi.com
Seven of the most frequent spinocerebellar ataxias (SCAs) are caused by a pathological
expansion of a cytosine, adenine and guanine (CAG) trinucleotide repeat located in exonic …