Results 11 to 20 of about 204,647,773 (266)

Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]

, 2013
Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core   +5 more sources

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, Sullivan, Gareth; id_orcid   +57 more
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Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS, Andrew R Gross, Heidi R Fuller, Catherine H Botting, Berhan eMandefro, Sally L Shirran, Anjoscha Samija Kaus, Fuller, HR, Dhruv eSareen, Glenn E Morris, Shirran, Sally Lorna; id_orcid   +33 more
core   +1 more source

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

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth, Sleeman, Judith Elizabeth; id_orcid   +3 more
core   +1 more source

cDNA that encodes active agrin [PDF]

, 1992
Agrin is thought to mediate the motor neuron-induced aggregation of AChRs and AChE on the surface of muscle fibers at neuromuscular junctions. We have isolated a cDNA from a chick brain library that, based on sequence homology and expression experiments,
Kröger, Stephan, Tsim, K. W., McMahan, U. J., Ruegg, M. A., Escher, G., Tsim, Karl W. K., Ruegg, Markus A., Escher, Gérard, Tsim, Karl W.K., Kroger, S.   +9 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

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