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 …

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 …

Phosphorylation of the FUS low‐complexity domain disrupts phase separation, aggregation, and toxicity

Z Monahan, VH Ryan, AM Janke, KA Burke… - The EMBO …, 2017 - embopress.org
Neuronal inclusions of aggregated RNA‐binding protein fused in sarcoma (FUS) are
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 …

Amyotrophic lateral sclerosis

O Hardiman, A Al-Chalabi, A Chio, EM Corr… - Nature reviews Disease …, 2017 - nature.com
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 …

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 …

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 …

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 …

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 …

Autophagy dysregulation in ALS: when protein aggregates get out of hand

N Ramesh, UB Pandey - Frontiers in molecular neuroscience, 2017 - frontiersin.org
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 …