Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

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 …

Mitochondrial dysfunction in neurodegenerative disorders: Potential therapeutic application of mitochondrial transfer to central nervous system-residing cells

FA Bustamante-Barrientos, N Luque-Campos… - Journal of Translational …, 2023 - Springer
Mitochondrial dysfunction is reiteratively involved in the pathogenesis of diverse
neurodegenerative diseases. Current in vitro and in vivo approaches support that …

Energy matters: presynaptic metabolism and the maintenance of synaptic transmission

S Li, ZH Sheng - Nature Reviews Neuroscience, 2022 - nature.com
Synaptic activity imposes large energy demands that are met by local adenosine
triphosphate (ATP) synthesis through glycolysis and mitochondrial oxidative …

[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing

F Jia, A Fellner, KR Kumar - Genes, 2022 - mdpi.com
Background: Open Access Editor's Choice Review Monogenic Parkinson's Disease:
Genotype, Phenotype, Pathophysiology, and Genetic Testing by Fangzhi Jia 1, 2, Avi Fellner …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

Frontotemporal dementia, where do we stand? A narrative review

A Antonioni, EM Raho, P Lopriore, AP Pace… - International journal of …, 2023 - mdpi.com
Frontotemporal dementia (FTD) is a neurodegenerative disease of growing interest, since it
accounts for up to 10% of middle-age-onset dementias and entails a social, economic, and …

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

R Chia, A Chiò, BJ Traynor - The Lancet Neurology, 2018 - thelancet.com
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …

[HTML][HTML] The role of mitochondria in amyotrophic lateral sclerosis

EF Smith, PJ Shaw, KJ De Vos - Neuroscience letters, 2019 - Elsevier
Mitochondria are unique organelles that are essential for a variety of cellular processes
including energy metabolism, calcium homeostasis, lipid biosynthesis, and apoptosis …