Article

Cardiovascular Dysfunction and Altered Lysosomal Signaling in a Murine Model of Acid Sphingomyelinase Deficiency

2025-03-20

Abstract excerpt

<title>Abstract</title> <p>Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disorder (LSD) caused by the deficiency of acid sphingomyelinase (ASMD), which is encoded by the <italic>Smpd1</italic> gene. ASMD impacts multiple organ systems in the body, including the cardiovascular system. This study is the first to characterize cardiac pathological changes in ASMD mice under baseline condi...

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Literature Corpus work: a8a93553-c4aa-570d-a5b9-5b7d37163f59
DOI: 10.21203/rs.3.rs-5154105/v1

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