Article
SMN-deficiency disrupts SERCA2 expression and intracellular Ca2+ signaling in cardiomyocytes from SMA mice and patient-derived iPSCs
2020-04-23
Abstract excerpt
<title>Abstract</title> <p>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 <italic>SMN1</italic> gene that result in reduced functional expression of survival motor neuron (SMN) protein. SMN is ubiquitously expressed and there have been reports of cardiovascular dysfunction in the most...
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Identifiers and source
- Literature Corpus work
- e24b084e-9150-5bcc-85de-ddebad809a0a
- DOI
- 10.21203/rs.3.rs-24179/v1
