Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes

Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes

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 metabol...

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Bibliographic Details
Main Authors: Anna Janz, Katharina Walz, Alexandra Cirnu, Jessica Surjanto, Daniela Urlaub, Miriam Leskien, Michael Kohlhaas, Alexander Nickel, Theresa Brand, Naoko Nose, Philipp Wörsdörfer, Nicole Wagner, Takahiro Higuchi, Christoph Maack, Jan Dudek, Kristina Lorenz, Eva Klopocki, Süleyman Ergün, Henry J. Duff, Brenda Gerull
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Molecular Metabolism
Subjects:
Dilated cardiomyopathy with ataxia
Genetics
Metabolism
Mitochondria
OXPHOS
ROS
Online Access:http://www.sciencedirect.com/science/article/pii/S221287782300193X

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http://www.sciencedirect.com/science/article/pii/S221287782300193X

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