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 …

Programmed axon degeneration: from mouse to mechanism to medicine

MP Coleman, A Höke - Nature Reviews Neuroscience, 2020 - nature.com
Wallerian degeneration is a widespread mechanism of programmed axon degeneration. In
the three decades since the discovery of the Wallerian degeneration slow (Wld S) mouse …

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 …

Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis

L Xu, T Liu, L Liu, X Yao, L Chen, D Fan, S Zhan… - Journal of …, 2020 - Springer
Background Amyotrophic lateral sclerosis (ALS) is a global disease, which adversely affects
the life quality of patients and significantly increases the burden of families and society. We …

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study

PC Haycock, S Burgess, A Nounu, J Zheng… - JAMA …, 2017 - jamanetwork.com
Importance The causal direction and magnitude of the association between telomere length
and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility …

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 …

Recent developments in TSPO PET imaging as a biomarker of neuroinflammation in neurodegenerative disorders

EL Werry, FM Bright, O Piguet, LM Ittner… - International journal of …, 2019 - mdpi.com
Neuroinflammation is an inflammatory response in the brain and spinal cord, which can
involve the activation of microglia and astrocytes. It is a common feature of many central …

Wallerian degeneration: an emerging axon death pathway linking injury and disease

L Conforti, J Gilley, MP Coleman - Nature Reviews Neuroscience, 2014 - nature.com
Axon degeneration is a prominent early feature of most neurodegenerative disorders and
can also be induced directly by nerve injury in a process known as Wallerian degeneration …