Results 21 to 30 of about 154,938 (268)

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

Tracheostomy in motor neurone disease

Practical Neurology, 2019
Tracheostomy-associated ventilation for the respiratory insufficiency caused by amyotrophic lateral sclerosis (motor neurone disease (MND)) is a complex issue with practical, ethical and economic dimensions. This article considers the current prevalence of tracheostomy in MND, the evidence for its benefit both for survival and quality of life, and the ...
Martin R Turner, Christina Faull, Christopher J McDermott, Annabel H Nickol, Jonathan Palmer, Kevin Talbot   +5 more
openaire   +3 more sources

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

Cell Reports, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni   +7 more
doaj   +1 more source

Inflammation in ALS and SMA: Sorting out the good from the evil

Neurobiology of Disease, 2010
Indices of neuroinflammation are found in a variety of diseases of the CNS including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Dimitra Papadimitriou, Virginia Le Verche, Arnaud Jacquier, Burcin Ikiz, Serge Przedborski, Diane B. Re   +5 more
doaj   +1 more source

Neurons other than motor neurons in motor neuron disease.

Histology and histopathology, 2017
Amyotrophic lateral sclerosis (ALS) is typically defined by a loss of motor neurons in the central nervous system. Accordingly, morphological analysis for decades considered motor neurons (in the cortex, brainstem and spinal cord) as the neuronal population selectively involved in ALS.
Ruffoli R, Biagioni F, Busceti CL, Gaglione A, Ryskalin L, Gambardella S, Frati A, Fornai F.   +7 more
openaire   +5 more sources

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

Nature Communications, 2016
The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma, Alexander K. Lyashchenko, Lei Lu, Sara Ebrahimi Nasrabady, Margot Elmaleh, Monica Mendelsohn, Adriana Nemes, Juan Carlos Tapia, George Z. Mentis, Neil A. Shneider   +9 more
doaj   +1 more source

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7

Molecular Therapy: Nucleic Acids, 2023
Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater   +8 more
doaj   +1 more source

Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]

Royal Society Open Science
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li, Karen Cleverley, Elisa M. Crombie, Jan Bieschke, Elizabeth M. C. Fisher, Anna-Leigh Brown   +5 more
doaj   +1 more source

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism

Acta Neuropathologica Communications
Dysregulation of the TAR DNA-binding protein 43 (TDP-43), including intraneuronal cytoplasmic mislocalisation and aggregation is a feature of multiple neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia
Alison L. Hogan, Madison Kane, Patrick Chiu, Grant Richter, Cindy Maurel, Sharlynn Wu, Natalie M. Scherer, Emily K. Don, Albert Lee, Ian P. Blair, Roger S. Chung, Marco Morsch   +11 more
doaj   +1 more source