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MAM-STAT3-induced upregulation of mitochondrial Ca <sup>+2</sup> causes immunosenescence in patients with type A mandibuloacral dysplasia

2022-09-03

Abstract excerpt

Homozygous lamina/c p.R527C mutations result in severe mandibuloacral dysplasia (MAD) and progeroid syndrome, but the underlying molecular pathology remains unknown. Here, we report on three patients with MAD, all displaying severe systemic inflammaging and characterized the major molecular pathways involved in the manifestation of this disease. Analysis of induced pluripotent stem cell (IPSC)-derived mesenchymal...

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Literature Corpus work
7a7cfbb2-ed9d-5e5a-a3c3-914f3d772418
DOI
10.1101/2022.08.31.504639
Open publication

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MAM-STAT3-induced upregulation of mitochondrial Ca <sup>+2</sup> causes immunosenescence in patients with type A mandibuloacral dysplasiaDOI 10.1101/2022.08.31.504639
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