The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.12608
Abstract: We would like to thank the comments from Dr Chen on our paper on ‘Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy’. In this study, we combined the survival… read more here.
Keywords: myostatin; muscle; smn; myostatin inhibition ... See more keywords
Spinal motor neurons and motor function in older adults
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9118-y
Abstract: This study examined the relation between lumbar spinal motor neuron (SMN) indices and motor function proximate to death in community-dwelling older adults. Older adults (N = 145) participating in the Rush Memory and Aging Project underwent structured… read more here.
Keywords: death; motor neurons; smn; spinal motor ... See more keywords
SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1835-2
Abstract: Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity… read more here.
Keywords: response; smn protein; smn; disease ... See more keywords
Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere
Sign Up to like & getrecommendations! Published in 2020 at "Cell and Tissue Research"
DOI: 10.1007/s00441-020-03236-3
Abstract: Spinal muscular atrophy (SMA) is caused by a deletion or mutation of the survival motor neuron 1 (SMN1) gene. Reduced SMN levels lead to motor neuron degeneration and muscular atrophy. SMN protein localizes to the… read more here.
Keywords: skeletal myofibers; smn; spinal muscular; band ... See more keywords
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.03.002
Abstract: BACKGROUND AND PURPOSE Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to… read more here.
Keywords: smn1; sma patients; mutations smn; smn ... See more keywords
TOR signaling regulates liquid phase separation of the SMN complex governing snRNP biogenesis.
Sign Up to like & getrecommendations! Published in 2021 at "Cell reports"
DOI: 10.1016/j.celrep.2021.109277
Abstract: The activity of the SMN complex in promoting the assembly of pre-mRNA processing UsnRNPs correlates with condensation of the complex in nuclear Cajal bodies. While mechanistic details of its activity have been elucidated, the molecular… read more here.
Keywords: phase separation; liquid phase; smn complex; smn ... See more keywords
SMN Enhances Pluripotent Genes Expression and Facilitates Cell Reprogramming.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cells and development"
DOI: 10.1089/scd.2022.0091
Abstract: Survival motor neuron (SMN) plays important roles in snRNPs assembly and mRNA splicing. Deficiency of SMN causes spinal muscular atrophy (SMA), a leading genetic disease of childhood mortality. Previous studies have shown that SMN regulates… read more here.
Keywords: smn enhances; pluripotent genes; expression; smn ... See more keywords
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awy330
Abstract: The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons share motif 7, targeted by SYNCRIP, which binds SMN. Impaired SYNCRIP-SMN interaction… read more here.
Keywords: motor neurons; smn; rna; motor ... See more keywords
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa229
Abstract: Spinal muscular atrophy is caused by mutation or deletion of SMN1 and retention of SMN2 leading to SMN protein deficiency. We developed an immortalized mouse embryonic fibroblast (iMEF) line in which full-length wild-type Smn (flwt-Smn)… read more here.
Keywords: flwt smn; smn; deletion; cell ... See more keywords
Base editing rescue of spinal muscular atrophy in cells and in mice
Sign Up to like & getrecommendations! Published in 2023 at "Science"
DOI: 10.1126/science.adg6518
Abstract: Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved therapies circumvent endogenous SMN regulation and require repeated dosing or may… read more here.
Keywords: time; smn; base editing; treatment ... See more keywords
Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.158380
Abstract: The survival of motor neuron (SMN) protein is a major component of the pre-mRNA splicing machinery and is required for RNA metabolism. Although SMN has been considered a fundamental gene for the central nervous system,… read more here.
Keywords: system; bap1; smn; dpp4 faps ... See more keywords