Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …
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 …
Nuclear pore complexes—a doorway to neural injury in neurodegeneration
AN Coyne, JD Rothstein - Nature Reviews Neurology, 2022 - nature.com
The genetic underpinnings and end-stage pathological hallmarks of neurodegenerative
diseases are increasingly well defined, but the cellular pathophysiology of disease initiation …
diseases are increasingly well defined, but the cellular pathophysiology of disease initiation …
Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition
Amyotrophic lateral sclerosis (ALS) is characterized by nucleocytoplasmic mislocalization of
the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more …
the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more …
The nuclear pore complex: birth, life, and death of a cellular behemoth
Nuclear pore complexes (NPCs) are the only transport channels that cross the nuclear
envelope. Constructed from~ 500–1000 nucleoporin proteins each, they are among the …
envelope. Constructed from~ 500–1000 nucleoporin proteins each, they are among the …
[HTML][HTML] NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility
Abstract A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common
genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions …
genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions …
SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis
We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
S Megat, N Mora, J Sanogo, O Roman… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-
temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and …
temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and …
Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy
B Khalil, D Chhangani, MC Wren, CL Smith… - Molecular …, 2022 - Springer
Background Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43
(TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia …
(TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia …