[HTML][HTML] 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 …

[HTML][HTML] Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis

S Häkkinen, SA Chu, SE Lee - Neurobiology of disease, 2020 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have a strong
clinical, genetic and pathological overlap. This review focuses on the current understanding …

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

M Naumann, K Peikert, R Günther… - Annals of clinical …, 2019 - Wiley Online Library
Abstract Objective Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most
prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and …

[HTML][HTML] Establishment of in vitro FUS-associated familial amyotrophic lateral sclerosis model using human induced pluripotent stem cells

N Ichiyanagi, K Fujimori, M Yano, C Ishihara-Fujisaki… - Stem cell reports, 2016 - cell.com
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disorder. Although its
neuropathology is well understood, the cellular and molecular mechanisms are yet to be …

[HTML][HTML] Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons

T Akiyama, N Suzuki, M Ishikawa, K Fujimori, T Sone… - …, 2019 - thelancet.com
Background The characteristic structure of motor neurons (MNs), particularly of the long
axons, becomes damaged in the early stages of amyotrophic lateral sclerosis (ALS) …

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

A Nishiyama, T Niihori, H Warita, R Izumi… - Neurobiology of …, 2017 - Elsevier
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease
characterized by loss of motor neurons. We have recently identified SOD1 and FUS …

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches

Z Firdaus, X Li - International journal of molecular sciences, 2024 - mdpi.com
Genetic abnormalities play a crucial role in the development of neurodegenerative disorders
(NDDs). Genetic exploration has indeed contributed to unraveling the molecular …

Safety, tolerability, and pharmacodynamics of intrathecal injection of recombinant human HGF (KP‐100) in subjects with amyotrophic lateral sclerosis: a phase I trial

H Warita, M Kato, R Asada, A Yamashita… - The journal of …, 2019 - Wiley Online Library
Hepatocyte growth factor is an endogenous pleiotropic factor shown to act as a potent
neuroprotectant against disease progression in animal models of amyotrophic lateral …

[HTML][HTML] TARDBP p. G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43

S Mitsuzawa, T Akiyama, A Nishiyama, N Suzuki… - …, 2018 - ncbi.nlm.nih.gov
3. Discussion To the best of our knowledge, this familial case study is the first Asian familial
ALS case report with a TARDBP p. G376D mutation, in which the clinical phenotype was …

Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis

K Okada, D Ito, S Morimoto, C Kato, Y Oguma, H Warita… - Brain, 2024 - academic.oup.com
Advanced pathological and genetic approaches have revealed that mutations in fused in
sarcoma/translated in liposarcoma (FUS/TLS), which is pivotal for DNA repair, alternative …