[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 …
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
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have a strong
clinical, genetic and pathological overlap. This review focuses on the current understanding …
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
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 …
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 …
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) …
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 …
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 …
(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 …
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 …
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 …
sarcoma/translated in liposarcoma (FUS/TLS), which is pivotal for DNA repair, alternative …