Results 11 to 20 of about 73,134 (225)

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

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

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

Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice

Cell Death Discovery, 2023
Nogo–Nogo receptor 1 (NgR1) signaling is significantly implicated in neurodegeneration in amyotrophic lateral sclerosis (ALS). We previously showed that lateral olfactory tract usher substance (LOTUS) is an endogenous antagonist of NgR1 that prevents all
Takuya Ikeda, Keita Takahashi, Minatsu Higashi, Hiroyasu Komiya, Tetsuya Asano, Akihiro Ogasawara, Shun Kubota, Shunta Hashiguchi, Misako Kunii, Kenichi Tanaka, Mikiko Tada, Hiroshi Doi, Hideyuki Takeuchi, Kohtaro Takei, Fumiaki Tanaka   +14 more
doaj   +1 more source

Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA). [PDF]

PLoS ONE, 2014
Spinal Muscular Atrophy (SMA) is a hereditary childhood disease that causes paralysis by progressive degeneration of skeletal muscles and spinal motor neurons.
Saniya Fayzullina, Lee J Martin
doaj   +1 more source

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

Disease Models & Mechanisms, 2016
Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a
Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li   +4 more
doaj   +1 more source

Altered Metabolic Profiles Associate with Toxicity in SOD1G93A Astrocyte-Neuron Co-Cultures

Scientific Reports, 2017
Non-cell autonomous processes involving astrocytes have been shown to contribute to motor neuron degeneration in amyotrophic lateral sclerosis. Mutant superoxide dismutase 1 (SOD1G93A) expression in astrocytes is selectively toxic to motor neurons in co ...
Gabriel N. Valbuena, Massimo Tortarolo, Caterina Bendotti, Lavinia Cantoni, Hector C. Keun   +4 more
doaj   +1 more source

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

Journal of Experimental Neuroscience, 2016
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad, Kanchan Bhatia, Annapoorna Kannan, Laxman Gangwani   +3 more
doaj   +1 more source