Article

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction

2025-11-11

Abstract excerpt

<title>Abstract</title> <p> <italic>NPTN</italic> encodes human neuroplastin (hNp), a subunit of plasma membrane Ca <sup>2+</sup> -ATPases (PMCA). The critical importance of hNp and its associations with PMCA are unknown for the human brain. Here, we describe <italic>de novo NPTN</italic> variants in seven individuals with autism and mild-to-severe DD/ID and evaluate them using animal models and <italic>in...

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Literature Corpus work: b46176c5-6fc5-5958-93d7-25f5c2a4f286
DOI: 10.21203/rs.3.rs-8079156/v1

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