[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 …

Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …

[HTML][HTML] Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis

C Ugbode, RJH West - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two
neurodegenerative diseases with clinical, genetic and pathological overlap. As such, they …

Emerging connections between nuclear pore complex homeostasis and ALS

S Chandra, CP Lusk - International Journal of Molecular Sciences, 2022 - mdpi.com
Developing effective treatments for neurodegenerative diseases such as amyotrophic lateral
sclerosis (ALS) requires understanding of the underlying pathomechanisms that contribute …

Variability in clinical phenotype in TARDBP mutations: amyotrophic lateral sclerosis case description and literature review

M Lombardi, L Corrado, B Piola, C Comi, R Cantello… - Genes, 2023 - mdpi.com
Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are
associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA …

TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms

C Tiloca, S Goldwurm, N Calcagno, F Verde… - Frontiers in Aging …, 2022 - frontiersin.org
Background Aggregates of TAR DNA-binding protein of 43 kDa (TDP-43) represent the
pathological hallmark of most amyotrophic lateral sclerosis (ALS) and of nearly 50% of …

Characterization of E121K mutation of D-amino acid oxidase–insights into mechanisms leading to amyotrophic lateral sclerosis

U Dave, S Khan, J Gomes - Biochimica et Biophysica Acta (BBA)-Proteins …, 2023 - Elsevier
D-amino acid oxidase (DAO) maintains the intracellular d-serine level which modulates the
activity of the N-methyl-d-aspartate receptor and its dysfunction has been linked to several …

The NGS technology for the identification of genes associated with the ALS. A systematic review

V Pecoraro, J Mandrioli, C Carone… - European journal of …, 2020 - Wiley Online Library
Background More than 30 causative genes have been identified in familial and sporadic
amyotrophic lateral sclerosis (ALS). The next‐generation sequencing (NGS) is a powerful …

Nurturing hope: uncovering the potential of herbal remedies against amyotrophic lateral sclerosis

M Gupta, MS Hussain, R Thapa, AA Bhat, N Kumar - PharmaNutrition, 2024 - Elsevier
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, as
currently available medications such as riluzole and edaravone aim to slow disease …

Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

P Narain, AK Padhi, U Dave, D Mishra, R Bhatia… - Neurogenetics, 2019 - Springer
Rare missense variants play a crucial role in amyotrophic lateral sclerosis (ALS)
pathophysiology. We report rare/novel missense variants from 154 Indian ALS patients …