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 …

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)

S Shukla, K Gupta, K Singh, A Mishra, A Kumar - Molecular Neurobiology, 2024 - Springer
Proliferation of specific nucleotide sequences within the coding and non-coding regions of
numerous genes has been implicated in approximately 40 neurodegenerative disorders …

Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease

JA Hisey, C Masnovo, SM Mirkin - NAR Molecular Medicine, 2024 - academic.oup.com
H-DNA is an intramolecular DNA triplex formed by homopurine-homopyrimidine mirror
repeats. Since its discovery, the field has advanced from characterizing the structure in vitro …

[PDF][PDF] Fenotypowa i genotypowa charakterystyka zespołu CANVAS

F Tomczuk, A Sułek, IP i Neurologii - researchgate.net
Choroby neurodegeneracyjne to grupa zaburzeń wpływających na ośrodkowy układ
nerwowy, które prowadzące do postępującej utraty i dysfunkcji neuronów [1]. Większość z …