Protein aggregation in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
phenotypes associated with pathogenic variants in a large number of genes, but in some the …