Results 11 to 20 of about 443,128 (313)

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

Scientific Reports, 2022
Motor neuron diseases such as amyotrophic lateral sclerosis are primarily characterized by motor neuron degeneration with additional involvement of non-neuronal cells, in particular, microglia.
Björn F. Vahsen, Elizabeth Gray, Ana Candalija, Kaitlyn M. L. Cramb, Jakub Scaber, Ruxandra Dafinca, Antigoni Katsikoudi, Yinyan Xu, Lucy Farrimond, Richard Wade-Martins, William S. James, Martin R. Turner, Sally A. Cowley, Kevin Talbot   +13 more
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Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
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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
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Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease [PDF]

, 2018
Human Ag R (HuR) is an RNA binding protein in the ELAVL protein family. To study the neuron-specific function of HuR, we generated inducible, neuron-specific HuR-deficient mice of both sexes.
Bai, Ying, Chen, Xing, Hamilton, Thomas A., Herjan, Tomasz, Kokiko-Cochran, Olga N., Lamb, Bruce, Lee, Yu-Shang, Li, Xiao, Lin, Ching-Yi, Sun, Kevin, Zhou, Gao   +10 more
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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
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Electrophysiological studies in healthy subjects involving caffeine [PDF]

, 2010
Copyright ©2012 IOS Press All rights reserved.We review the electrophysiological studies concerning the effects of caffeine on muscle, lower and upper motor neuron excitability and cognition.
Carvalho, Mamede, Marcelino, Erica, Mendonça, Alexandre de   +2 more
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Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
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
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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
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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