Disrupted neuronal trafficking in amyotrophic lateral sclerosis

K Burk, RJ Pasterkamp - Acta neuropathologica, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive, adult-onset neurodegenerative disease
caused by degeneration of motor neurons in the brain and spinal cord leading to muscle …

Functional significance of TDP-43 mutations in disease

E Buratti - Advances in genetics, 2015 - Elsevier
At present, there are very few therapeutic options for patients affected by amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by …

HSP70 chaperones RNA-free TDP-43 into anisotropic intranuclear liquid spherical shells

H Yu, S Lu, K Gasior, D Singh, S Vazquez-Sanchez… - Science, 2021 - science.org
INTRODUCTION Aggregation of the RNA binding protein TDP-43 (TAR DNA-binding protein
43) is a common pathological hallmark shared by several age-related neurodegenerative …

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

W Guo, M Naujock, L Fumagalli, T Vandoorne… - Nature …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due
to selective loss of motor neurons (MNs). Mutations in the fused in sarcoma (FUS) gene can …

TDP-43 post-translational modifications in health and disease

E Buratti - Expert opinion on therapeutic targets, 2018 - Taylor & Francis
Introduction: Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that
plays a key causative role in several neurodegenerative diseases, especially in the …

HDAC6 in Diseases of Cognition and of Neurons

P LoPresti - Cells, 2020 - mdpi.com
Central nervous system (CNS) neurodegenerative diseases are characterized by faulty
intracellular transport, cognition, and aggregate regulation. Traditionally, neuroprotection …

HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease

V Benoy, L Van Helleputte, R Prior, C d'Ydewalle… - Brain, 2018 - academic.oup.com
Peripheral nerve axons require a well-organized axonal microtubule network for efficient
transport to ensure the constant crosstalk between soma and synapse. Mutations in more …

ER lipid defects in neuropeptidergic neurons impair sleep patterns in Parkinson's disease

JS Valadas, G Esposito, D Vandekerkhove… - Neuron, 2018 - cell.com
Parkinson's disease patients report disturbed sleep patterns long before motor dysfunction.
Here, in parkin and pink1 models, we identify circadian rhythm and sleep pattern defects …

Active zone compaction correlates with presynaptic homeostatic potentiation

A Mrestani, M Pauli, P Kollmannsberger, F Repp… - Cell Reports, 2021 - cell.com
Neurotransmitter release is stabilized by homeostatic plasticity. Presynaptic homeostatic
potentiation (PHP) operates on timescales ranging from minute-to life-long adaptations and …

Acetylated α-tubulin K394 regulates microtubule stability to shape the growth of axon terminals

HAJ Saunders, DM Johnson-Schlitz, BV Jenkins… - Current Biology, 2022 - cell.com
Microtubules are essential to neuron shape and function. Acetylation of tubulin has the
potential to directly tune the behavior and function of microtubules in cells. Although …