ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
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 …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

ALS genes in the genomic era and their implications for FTD

HP Nguyen, C Van Broeckhoven, J van der Zee - Trends in Genetics, 2018 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …

Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations

ME Lauterbur, MIA Cavassim, AL Gladstein, G Gower… - Elife, 2023 - elifesciences.org
Simulation is a key tool in population genetics for both methods development and empirical
research, but producing simulations that recapitulate the main features of genomic datasets …

Epigenetics in amyotrophic lateral sclerosis: a role for histone post-translational modifications in neurodegenerative disease

SA Bennett, R Tanaz, SN Cobos, MP Torrente - Translational research, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is the third most common adult onset neurodegenerative
disorder worldwide. It is generally characterized by progressive paralysis starting at the …

Histone methylation regulation in neurodegenerative disorders

BS Basavarajappa, S Subbanna - International journal of molecular …, 2021 - mdpi.com
Advances achieved with molecular biology and genomics technologies have permitted
investigators to discover epigenetic mechanisms, such as DNA methylation and histone …

AMPA receptor neurotransmission and therapeutic applications: A comprehensive review of their multifaceted modulation

M Qneibi, S Bdir, M Bdair, SA Aldwaik… - European Journal of …, 2024 - Elsevier
The neuropharmacological community has shown a strong interest in AMPA receptors as
critical components of excitatory synaptic transmission during the last fifteen years. AMPA …

Genetics and sex in the pathogenesis of amyotrophic lateral sclerosis (ALS): is there a link?

F Trojsi, G D'Alvano, S Bonavita… - International journal of …, 2020 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no known
cure. Approximately 90% of ALS cases are sporadic, although multiple genetic risk factors …

Genetic modifiers and non-Mendelian aspects of CMT

DM Bis-Brewer, S Fazal, S Züchner - Brain research, 2020 - Elsevier
Abstract Charcot-Marie-Tooth (CMT) neuropathies are amongst the most common inherited
diseases in neurology. While great strides have been made to identify the genesis of these …

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

L Libonati, C Cambieri, D Colavito, F Moret… - Journal of …, 2024 - Springer
Abstract Introduction Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease
with an elusive etiology. While environmental factors have been considered, familial ALS …