SMN-deficiency disrupts SERCA2 expression and intracellular Ca(2+) signaling in cardiomyocytes from SMA mice and patient-derived iPSCs

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of alpha motor neurons and skeletal muscle atrophy. The disease is caused by mutations of the SMN1 gene that result in reduced functional expression of survival motor neuron (SMN) protein. SMN is ubiquitously expresse...

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Bibliografiske detaljer
Udgivet i:Skelet Muscle
Main Authors: Khayrullina, Guzal, Moritz, Kasey E., Schooley, James F., Fatima, Naheed, Viollet, Coralie, McCormack, Nikki M., Smyth, Jeremy T., Doughty, Martin L., Dalgard, Clifton L., Flagg, Thomas P., Burnett, Barrington G.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7206821/
https://ncbi.nlm.nih.gov/pubmed/32384912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-020-00232-7
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