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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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Literature Corpus work
e24b084e-9150-5bcc-85de-ddebad809a0a
DOI
10.21203/rs.3.rs-24179/v1
Open publication

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SMN-deficiency disrupts SERCA2 expression and intracellular Ca2+ signaling in cardiomyocytes from SMA mice and patient-derived iPSCsDOI 10.21203/rs.3.rs-24179/v1
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