Results 21 to 30 of about 174,614,231 (302)

Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis. [PDF]

Ann Clin Transl Neurol
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Zanovello M, Serani F, Bebeti A, Paredi F, Quadrio G, Fortuna A, Minicuci GM, Pegoraro E, Cagnin A, Cecchin D, Sorarù G.   +10 more
europepmc   +2 more sources

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.

PLoS Genetics, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater   +16 more
doaj   +1 more source

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

BMC Biology, 2020
Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is ...
Melissa B. Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart   +10 more
doaj   +1 more source

Boundary cap cells constrain spinal motor neuron somal migration at motor exit points by a semaphorin-plexin mechanism [PDF]

, 2007
In developing neurons, somal migration and initiation of axon outgrowth often occur simultaneously and are regulated in part by similar classes of molecules. When neurons reach their final destinations, however, somal translocation and axon extension are
Mitchell, KJ, Little, GE, Vermeren Matthieu, Kokot Natalie, Cohen, J, Little Graham E, Bron Romke, Andrews William, Cohen James, Andrews, W, Bron, R, Kokot, N, Vermeren, M, Mitchell Kevin J   +13 more
core   +11 more sources

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]

, 2009
Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Hazel P Williams, Greensmith Linda, Francesca Achilli, Ruth Chia, Elizabeth M. C. Fisher, Hazel P. Williams, Fisher Elizabeth M. C., Achilli, F., Chia, R, Bryson, J.B., Bros-Facer, V., Greensmith, L., Bros-Facer, V, Banks, G.T., Bryson, JB, Banks, GT, Fisher, EMC, Bros-Facer Virginie, Linda Greensmith, Fisher, E.M.C., Banks Gareth T., Chia, R., Gareth T Banks, Williams, HP, Greensmith, L, Williams Hazel P., Elizabeth M C Fisher, J Barney Bryson, Gareth T. Banks, Virginie Bros-Facer, Achilli Francesca, Williams, H.P., Bryson J. Barney, Chia Ruth, J. Barney Bryson, Achilli, F   +35 more
core   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources

The SMN protein is a key regulator of nuclear architecture in differentiating neuroblastoma cells [PDF]

, 2009
The cell nucleus contains two closely related structures, Cajal bodies (CBs) and gems. CBs are the first site of accumulation of newly assembled splicing snRNPs (small nuclear ribonucleoproteins) following their import into the nucleus, before they form ...
Nicholas P. Kinnear, Lisa Oram, Julie Burza, Clelland, Allyson K., Oram, Lisa, Allyson K. Clelland, Judith E. Sleeman, Kinnear, Nicholas P., Sleeman, Judith Elizabeth, Burza, Julie   +9 more
core   +1 more source

Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons

Developmental Neurobiology, 2013
Spinal muscular atrophy (SMA) is a lethal neurodegenerative disease specifically affecting spinal motor neurons. SMA is caused by the homozygous deletion or mutation of the survival of motor neuron 1 (SMN1) gene.
C. Fallini, Jeremy P. Rouanet, Paul G. Donlin-Asp, Peng Guo, Hong-Lai Zhang, R. H. Singer, W. Rossoll, G. Bassell   +7 more
semanticscholar   +1 more source

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. [PDF]

PLoS ONE, 2016
Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN protein ...
Phillip Zaworski, Katharine M von Herrmann, Shannon Taylor, Sara S Sunshine, Kathleen McCarthy, Nicole Risher, Tara Newcomb, Marla Weetall, Thomas W Prior, Kathryn J Swoboda, Karen S Chen, Sergey Paushkin   +11 more
doaj   +1 more source

R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy

Frontiers in Cellular Neuroscience, 2022
Defects in DNA repair pathways are a major cause of DNA damage accumulation leading to genomic instability and neurodegeneration. Efficient DNA damage repair is critical to maintain genomicstability and support cell function and viability.
Juliana Cuartas, Laxman Gangwani, Laxman Gangwani   +2 more
doaj   +1 more source