Results 61 to 70 of about 6,068 (173)
TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics
The FEBS Journal, EarlyView.This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga +15 more
wiley +1 more source
Brain Sciences(1) Background: Spinocerebellar ataxias (SCA) is a term that refers to a group of hereditary ataxias, which are neurological diseases characterized by degeneration of the cells that constitute the cerebellum.
José Alberto Álvarez-Cuesta +6 more
doaj +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Cognitive and motor reserve in Parkinson's disease: Two sides of the same coin?
Journal of Neuropsychology, EarlyView.Abstract Cognitive reserve (CR) and motor reserve (MR) are constructs that can explain why some people are more resilient than others to neurodegenerative diseases such as Parkinson's disease (PD). However, it is unclear whether these reserves exert domain‐specific or cross‐domain influences.
Isabella Anzuino +7 more
wiley +1 more source
Research progress of spinocerebellar ataxia type 1
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Spinocerebellar ataxia type 1 (SCA1) is a kind of autosomal dominant genetic neurodegenerative disorder. To date, the pathogenesis of SCA1 remains unclear.
Lin-wei ZHANG, Wei-hong GU
doaj
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
Arquivos de Neuro-PsiquiatriaSpinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior +7 more
doaj +1 more source
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
PLoS ONE, 2017 BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao +5 more
doaj +1 more source
The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease
Brain Pathology, Volume 36, Issue 5, September 2026.SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery +17 more
wiley +1 more source