Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.

doi:10.1126/scitranslmed.abf3274

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Article

Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.

Science translational medicine - 19 Jan 2022

Hakui Hideyuki, Kioka Hidetaka, Miyashita Yohei, Nishimura Shunsuke, Matsuoka Ken, Kato Hisakazu, Tsukamoto Osamu, Kuramoto Yuki, Takuwa Ayako, Takahashi Yusuke, Saito Shigeyoshi, Ohta Kunio, Asanuma Hiroshi, Fu Hai Ying, Shinomiya Haruki, Yamada Noriaki, Ohtani Tomohito, Sawa Yoshiki, Kitakaze Masafumi, Takashima Seiji, Sakata Yasushi, Asano Yoshihiro

Abstract excerpt

Dilated cardiomyopathy (DCM) is a major cause of heart failure, characterized by ventricular dilatation and systolic dysfunction. Familial DCM is reportedly caused by mutations in more than 50 genes, requiring precise disease stratification based on genetic information. However, the underlying genetic causes of 60 to 80% of familial DCM cases remain unknown. Here, we identified that homozygous truncating...

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PMID: 35044787
DOI: 10.1126/scitranslmed.abf3274

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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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