Protein aggregation in amyotrophic lateral sclerosis

AM Blokhuis, EJN Groen, M Koppers… - Acta …, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

MER Butchbach - Frontiers in molecular biosciences, 2016 - frontiersin.org
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide,
is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss …

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

S Sun, SC Ling, J Qiu, CP Albuquerque, Y Zhou… - Nature …, 2015 - nature.com
The RNA-binding protein FUS/TLS, mutation in which is causative of the fatal motor neuron
disease amyotrophic lateral sclerosis (ALS), is demonstrated to directly bind to the U1 …

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

T Yamazaki, S Chen, Y Yu, B Yan, TC Haertlein… - Cell reports, 2012 - cell.com
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal
adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor …

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

H Tsuiji, Y Iguchi, A Furuya, A Kataoka… - EMBO molecular …, 2013 - embopress.org
Two motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular
atrophy (SMA), are caused by distinct genes involved in RNA metabolism, TDP‐43 and …

Neuroprotective efficacy of aminopropyl carbazoles in a mouse model of amyotrophic lateral sclerosis

R Tesla, HP Wolf, P Xu, J Drawbridge… - Proceedings of the …, 2012 - National Acad Sciences
We previously reported the discovery of P7C3, an aminopropyl carbazole having
proneurogenic and neuroprotective properties in newborn neural precursor cells of the …

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

EJN Groen, K Fumoto, AM Blokhuis… - Human molecular …, 2013 - academic.oup.com
Mutations in the RNA binding protein fused in sarcoma/translated in liposarcoma (FUS/TLS)
cause amyotrophic lateral sclerosis (ALS). Although ALS-linked mutations in FUS often lead …

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS

I Allodi, L Comley, S Nichterwitz, M Nizzardo… - Scientific reports, 2016 - nature.com
The fatal disease amyotrophic lateral sclerosis (ALS) is characterized by the loss of somatic
motor neurons leading to muscle wasting and paralysis. However, motor neurons in the …

[HTML][HTML] VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases

PA Lazo, P Morejón-García - Neurobiology of Disease, 2023 - Elsevier
Distal hereditary neuropathies and neuro motor diseases are complex neurological
phenotypes associated with pathogenic variants in a large number of genes, but in some the …