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

• Main Authors: Anna Janz (Author), Katharina Walz (Author), Alexandra Cirnu (Author), Jessica Surjanto (Author), Daniela Urlaub (Author), Miriam Leskien (Author), Michael Kohlhaas (Author), Alexander Nickel (Author), Theresa Brand (Author), Naoko Nose (Author), Philipp Wörsdörfer (Author), Nicole Wagner (Author), Takahiro Higuchi (Author), Christoph Maack (Author), Jan Dudek (Author), Kristina Lorenz (Author), Eva Klopocki (Author), Süleyman Ergün (Author), Henry J. Duff (Author), Brenda Gerull (Author)
• Format: Book
• Published: Elsevier, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...