What is the pathogenic CAG expansion length in Huntington's disease?

J Donaldson, S Powell, N Rickards… - Journal of …, 2021 - content.iospress.com
Abstract Huntington's disease (HD)(OMIM 143100) is caused by an expanded CAG repeat
tract in the HTT gene. The inherited CAG length is known to expand further in somatic and …

Spinocerebellar ataxias

BW Soong, PJ Morrison - Handbook of clinical neurology, 2018 - Elsevier
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …

Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank

T Chambers, V Escott-Price, S Legge, E Baker… - Molecular …, 2022 - nature.com
Interest in the cerebellum is expanding given evidence of its contributions to cognition and
emotion, and dysfunction in various psychopathologies. However, research into its genetic …

Parental micronutrient deficiency distorts liver DNA methylation and expression of lipid genes associated with a fatty-liver-like phenotype in offspring

KH Skjærven, LM Jakt, JMO Fernandes, JA Dahl… - Scientific reports, 2018 - nature.com
Micronutrient status of parents can affect long term health of their progeny. Around 2 billion
humans are affected by chronic micronutrient deficiency. In this study we use zebrafish as a …

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 …

Fusion of 3D feature extraction techniques to enhance classification of spinocerebellar ataxia type 12

S Agrawal, RK Agrawal, SS Kumaran… - International Journal of …, 2024 - Springer
Abstract Spinocerebellar ataxia type 12 (SCA12) is a neurogenetic disease, marked with
prominent action tremors in the upper limbs. Neuroimaging techniques like magnetic …

Between interactions and aggregates: the PolyQ balance

P Mier, MA Andrade-Navarro - Genome Biology and Evolution, 2021 - academic.oup.com
Polyglutamine (polyQ) regions are highly abundant consecutive runs of glutamine residues.
They have been generally studied in relation to the so-called polyQ-associated diseases …

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

T Kurosaki, T Ashizawa - Frontiers in Genetics, 2022 - frontiersin.org
Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar
neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in …

Genetics of ataxias in Indian population: a collative insight from a common genetic screening tool

P Sharma, AK Sonakar, N Tyagi, V Suroliya… - Advanced …, 2022 - Wiley Online Library
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive
neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs …

Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12

C Zhou, HB Liu, F Jahanbakhsh, L Deng… - Movement …, 2023 - Wiley Online Library
Background Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease
caused by expansion of a CAG repeat in the PPP2R2B gene. Objective In this study, we …