Compromised MAPK signaling in human diseases: an update
EK Kim, EJ Choi - Archives of toxicology, 2015 - Springer
The mitogen-activated protein kinases (MAPKs) in mammals include c-Jun NH 2-terminal
kinase (JNK), p38 MAPK, and extracellular signal-regulated kinase (ERK). These enzymes …
kinase (JNK), p38 MAPK, and extracellular signal-regulated kinase (ERK). These enzymes …
Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies
IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …
basis. The past decade has seen the discovery of several new FTD‐causing genetic …
Phosphorylation of the FUS low‐complexity domain disrupts phase separation, aggregation, and toxicity
Neuronal inclusions of aggregated RNA‐binding protein fused in sarcoma (FUS) are
hallmarks of ALS and frontotemporal dementia subtypes. Intriguingly, FUS's nearly …
hallmarks of ALS and frontotemporal dementia subtypes. Intriguingly, FUS's nearly …
Liquid demixing of intrinsically disordered proteins is seeded by poly (ADP-ribose)
M Altmeyer, KJ Neelsen, F Teloni… - Nature …, 2015 - nature.com
Intrinsically disordered proteins can phase separate from the soluble intracellular space,
and tend to aggregate under pathological conditions. The physiological functions and …
and tend to aggregate under pathological conditions. The physiological functions and …
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …
by the degeneration of both upper and lower motor neurons, which leads to muscle …
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
A Sharma, AK Lyashchenko, L Lu… - Nature …, 2016 - nature.com
Mutations in FUS cause amyotrophic lateral sclerosis (ALS), including some of the most
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …
PARP-1 activation directs FUS to DNA damage sites to form PARG-reversible compartments enriched in damaged DNA
AS Singatulina, L Hamon, MV Sukhanova, B Desforges… - Cell reports, 2019 - cell.com
PARP-1 synthesizes long poly (ADP-ribose) chains (PAR) at DNA damage sites to recruit
DNA repair factors. Among proteins relocated on damaged DNA, the RNA-binding protein …
DNA repair factors. Among proteins relocated on damaged DNA, the RNA-binding protein …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway
YC Lin, MS Kumar, N Ramesh, EN Anderson… - Nature …, 2021 - nature.com
Nucleocytoplasmic transport (NCT) decline occurs with aging and neurodegeneration. Here,
we investigated the NCT pathway in models of amyotrophic lateral sclerosis–fused in …
we investigated the NCT pathway in models of amyotrophic lateral sclerosis–fused in …
Autophagy dysregulation in ALS: when protein aggregates get out of hand
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that results from the
loss of upper and lower motor neurons. One of the key pathological hallmarks in diseased …
loss of upper and lower motor neurons. One of the key pathological hallmarks in diseased …