Results 31 to 40 of about 174,614,231 (302)
Scientific Reports, 2017 Spinal muscular atrophy (SMA) is caused by homozygous mutation of the survival motor neuron 1 (SMN1) gene. Disease severity inversely correlates to the amount of SMN protein produced from the homologous SMN2 gene.
L. Nash +11 more
semanticscholar +1 more source
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 +14 more
doaj +1 more source
Cell Death and Disease, 2020 Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by loss of the survival motor neuron 1 ( SMN1 ) gene. SMA is characterized by the degeneration of spinal cord motoneurons (MNs), progressive skeletal muscle atrophy, and weakness ...
Sandra de la Fuente +6 more
semanticscholar +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 +2 more
core +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 +4 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
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 +3 more
doaj +1 more source
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 +4 more
doaj +1 more source
International Journal of Molecular Sciences, 2018 Spinal muscular atrophy (SMA) is an autosomal-recessive childhood motor neuron disease and the main genetic cause of infant mortality. SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene, which results in SMN protein ...
A. Ramirez +6 more
semanticscholar +1 more source
Survival Motor Neuron (SMN) protein is required for normal mouse liver development
Scientific Reports, 2016 Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients.
Eva Szunyogová +6 more
semanticscholar +1 more source