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Article

Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca2+]i distribution in human iPSC-derived cardiomyocytes.

Journal of molecular and cellular cardiology - 1 Aug 2024

Naumenko Nikolay, Koivumäki Jussi T, Lunko Olesia, Tuomainen Tomi, Leigh Robert, Rabiee Mina, Laurila Jalmari, Oksanen Minna, Lehtonen Sarka, Koistinaho Jari, Tavi Pasi

Abstract excerpt

Mutations in ubiquitously expressed presenilin genes (PSENs) lead to early-onset familial Alzheimer's disease (FAD), but patients carrying the mutation also suffer from heart diseases. To elucidate the cardiac myocyte specific effects of PSEN ΔE9, we studied cardiomyocytes derived from induced pluripotent stem cells (iPSC-CMs) from patients carrying AD-causing PSEN1 exon 9 deletion (PSEN1 ΔE9). When compared with...

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Source

Identifiers

PMID: 38851626
DOI: 10.1016/j.yjmcc.2024.06.003

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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