Results 21 to 30 of about 164,738 (314)

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
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 neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
core   +1 more source

Motor neurone disease [PDF]

BMJ, 1996
In patients with motor neurone disease, progressively worsening breathlessness often coincides with deteriorating bulbar function, and this combination may lead to difficulties in swallowing and coughing and a risk of aspiration. Occasionally, chest infections cause life threatening respiratory failure.
openaire   +2 more sources

Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

Cell Reports, 2017
The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons.
Christian M. Simon, Ya Dai, Meaghan Van Alstyne, Charalampia Koutsioumpa, John G. Pagiazitis, Joshua I. Chalif, Xiaojian Wang, Joseph E. Rabinowitz, Christopher E. Henderson, Livio Pellizzoni, George Z. Mentis   +10 more
doaj   +1 more source

The era of cryptic exons: implications for ALS-FTD

Molecular Neurodegeneration, 2023
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta, Anna-Leigh Brown, Michael E. Ward, Pietro Fratta   +3 more
doaj   +1 more source

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability [PDF]

, 2015
This work has been supported by: Motor Neurone Disease Association (G.B.M., S.C. and C.E.S.); Euan MacDonald Centre (G.B.M. and S.C.); European Research Council (L.V.); Cambridge Hospitals National Institute for Health Research Biomedical Research Center
Foster, Joshua D., Shaw, Christopher E., Cleary, Elaine M., Cleary, Elaine M, Foster, Joshua D, Miles, Gareth B, Devlin, Anna-Claire, Geti, Imbisaat, Cleary, Elaine Marie, Miles, Gareth B., Borooah, Shyamanga, Devlin, Anna Claire, Shaw, Christopher E, Vallier, Ludovic, Burr, Karen, Chandran, Siddharthan   +15 more
core   +1 more source

A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency

Cell Reports, 2016
In spinal muscular atrophy, a neurodegenerative disease caused by ubiquitous deficiency in the survival motor neuron (SMN) protein, sensory-motor synaptic dysfunction and increased excitability precede motor neuron (MN) loss.
Christian M. Simon, Anna M. Janas, Francesco Lotti, Juan Carlos Tapia, Livio Pellizzoni, George Z. Mentis   +5 more
doaj   +1 more source

A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3

Cells, 2021
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson, Kristy Yuan, Stuart K. Plenderleith, Maxinne Watchon, Angela S. Laird   +4 more
doaj   +1 more source

Motor neurone disease [PDF]

Postgraduate Medical Journal, 2002
Abstract Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a neurodegenerative disorder of unknown aetiology. Progressive motor weakness and bulbar dysfunction lead to premature death, usually from respiratory failure. Confirming the diagnosis may initially be difficult until the full clinical features are manifest.
openaire   +3 more sources

Cardiomyopathy in motor neuron diseases [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2006
Myocardial involvement in motor neuron diseases (MND) is an uncommon feature. In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the hereditary spastic paraplegias (HSP) comparable manifestations are unknown.
H-J, Gdynia, A, Kurt, S, Endruhn, A C, Ludolph, A-D, Sperfeld   +4 more
openaire   +2 more sources

Motor neuron disease: The last 12 months

, 2022
Background For patients with motor neuron disease (MND), the final 12 months of life can be a tumultuous period, with rapid and significant losses in function and independence, regular contact with the health system and carer stress.
Brennan, Frank, Narasimhan, Manisha, Gardiner, Matthew ; https://orcid.org/   +2 more
core   +1 more source