Article
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Molecular metabolism - 1 Jan 2024
Janz Anna, Walz Katharina, Cirnu Alexandra, Surjanto Jessica, Urlaub Daniela, Leskien Miriam, Kohlhaas Michael, Nickel Alexander, Brand Theresa, Nose Naoko, Wörsdörfer Philipp, Wagner Nicole, Higuchi Takahiro, Maack Christoph, Dudek Jan, Lorenz Kristina, Klopocki Eva, Ergün Süleyman, Duff Henry J, Gerull Brenda
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threatening, cardiomyopathy associated with other metabolic features. Here, we aim to understand the metabolic and pathophysiological mechanisms of mutant DNAJC19 for the...
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