Results 21 to 30 of about 423,991 (315)

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

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

Proceedings of the National Academy of Sciences of the United States of America, 2019
Significance Amyotrophic lateral sclerosis (ALS) is a devastating, motor neuron degenerative disease without any cure to date. About 95% of ALS patients feature abnormalities in the RNA/DNA binding protein TDP-43, involving its nucleus-cytoplasmic ...
J. Mitra, Erika N. Guerrero, Erika N. Guerrero, Pavana M. Hegde, Nicole F. Liachko, Haibo Wang, Velmarini Vasquez, Velmarini Vasquez, Junling Gao, Arvind Pandey, J. P. Taylor, B. Kraemer, Ping Wu, I. Boldogh, R. Garruto, Sankar Mitra, Sankar Mitra, K. S. Rao, M. Hegde, M. Hegde   +19 more
semanticscholar   +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

Biomarkers in Motor Neuron Disease: A State of the Art Review

Frontiers in Neurology, 2019
Motor neuron disease can be viewed as an umbrella term describing a heterogeneous group of conditions, all of which are relentlessly progressive and ultimately fatal.
N. Verber, Stephanie R Shepheard, Matilde Sassani, Harry E. McDonough, S. A. Moore, J. Alix, I. Wilkinson, T. Jenkins, P. Shaw   +8 more
semanticscholar   +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

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

Frontiers in Molecular Neuroscience, 2021
The past decade has seen a rapid acceleration in the discovery of new genetic causes of ALS, with more than 20 putative ALS-causing genes now cited. These genes encode proteins that cover a diverse range of molecular functions, including free radical ...
Flora Cheng, Alana De Luca, Alison L. Hogan, Stephanie L. Rayner, Jennilee M. Davidson, Maxinne Watchon, Claire H. Stevens, Claire H. Stevens, Sonia Sanz Muñoz, Sonia Sanz Muñoz, Lezanne Ooi, Lezanne Ooi, Justin J. Yerbury, Justin J. Yerbury, Emily K. Don, Jennifer A. Fifita, Maria D. Villalva, Hannah Suddull, Tyler R. Chapman, Thomas J. Hedl, Adam K. Walker, Adam K. Walker, Shu Yang, Marco Morsch, Bingyang Shi, Ian P. Blair, Angela S. Laird, Roger S. Chung, Albert Lee   +28 more
doaj   +1 more source

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)

Neurobiology of Disease, 2022
Investigations into the pathogenetic mechanisms underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have provided significant insight into the disease.
Jennilee M. Davidson, Roger S. Chung, Albert Lee   +2 more
doaj   +1 more source

Gut inflammation and dysbiosis in human motor neuron disease

Physiological Reports, 2017
Amyotrophic lateral sclerosis (ALS) is a systemic disorder that involves dysfunction of multiple organs. Growing evidence has shown that neurodegenerative disorders with gut dysbiosis affect the central nervous system via pro‐inflammatory mediators thus ...
J. Rowin, Yinglin Xia, Barbara Jung, Jun Sun   +3 more
semanticscholar   +1 more source

Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

Human Molecular Genetics, 2016
The recent identification of profilin1 mutations in 25 familial ALS cases has linked altered function of this cytoskeleton-regulating protein to the pathogenesis of motor neuron disease.
D. Fil, Abigail Deloach, Shilpi Yadav, Duah Alkam, M. MacNicol, Ashutosh Kumar Singh, C. Compadre, Joseph J. Goellner, C. O’Brien, T. Fahmi, A. Basnakian, N. Calingasan, Jodi L. Klessner, F. Beal, O. Peters, Jake Metterville, Robert H. Brown, K. Ling, F. Rigo, P. Ozdinler, M. Kiaei   +20 more
semanticscholar   +1 more source

Real-time visualization of oxidative stress-mediated neurodegeneration of individual spinal motor neurons in vivo

Redox Biology, 2018
Generation of reactive oxygen species (ROS) has been shown to be important for many physiological processes, ranging from cell differentiation to apoptosis. With the development of the genetically encoded photosensitiser KillerRed (KR) it is now possible
Isabel Formella, Adam J. Svahn, Rowan A.W. Radford, Emily K. Don, Nicholas J. Cole, Alison Hogan, Albert Lee, Roger S. Chung, Marco Morsch   +8 more
doaj   +1 more source