Molecular mechanisms underlying nucleotide repeat expansion disorders
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …
of these repeat tracts underlies over fifty human disorders, including common genetic …
ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis
Y Yuan, Z Liu, X Hou, W Li, J Ni, L Huang, Y Hu, P Liu… - Neurology, 2020 - AAN Enterprises
Objective To determine whether the GGC repeats in the NOTCH2NLC gene contribute to
amyotrophic lateral sclerosis (ALS). Methods In this study, 545 patients with ALS and 1,305 …
amyotrophic lateral sclerosis (ALS). Methods In this study, 545 patients with ALS and 1,305 …
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
[HTML][HTML] The genetic architecture of ALS
A Shatunov, A Al-Chalabi - Neurobiology of Disease, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …
which have in common the progressive degeneration of upper and lower motor neurons …
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
GHP Tazelaar, S Boeynaems, M De Decker… - Brain …, 2020 - academic.oup.com
Increasingly, repeat expansions are being identified as part of the complex genetic
architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been …
architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been …
Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease
We analyzed the frequency of intermediate alleles (IAs) in the ATXN1, ATXN2, and HTT
genes in several neurodegenerative diseases. The study included 1126 patients with …
genes in several neurodegenerative diseases. The study included 1126 patients with …
[HTML][HTML] Genetic architecture of common non-Alzheimer's disease dementias
Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia
(VaD) are the most common forms of dementia after Alzheimer's disease (AD). The …
(VaD) are the most common forms of dementia after Alzheimer's disease (AD). The …
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Huntington disease (HD) is a neurodegenerative disorder caused by≥ 36 CAGs in the HTT
gene. Intermediate alleles (IAs)(27–35 CAGs) are not considered HD-causing, but their …
gene. Intermediate alleles (IAs)(27–35 CAGs) are not considered HD-causing, but their …