Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

doi:10.1016/j.bbrc.2013.12.003

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Article

Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

Biochemical and biophysical research communications - 10 Jan 2014

Hirano Ken-ichi, Tanaka Tatsuya, Ikeda Yoshihiko, Yamaguchi Satoshi, Zaima Nobuhiro, Kobayashi Kazuhiro, Suzuki Akira, Sakata Yasuhiko, Sakata Yasushi, Kobayashi Kunihisa, Toda Tatsushi, Fukushima Norihide, Ishibashi-Ueda Hatsue, Tavian Daniela, Nagasaka Hironori, Hui Shu-Ping, Chiba Hitoshi, Sawa Yoshiki, Hori Masatsugu

Abstract excerpt

Adipose triglyceride lipase (ATGL, also known as PNPLA2) is an essential molecule for hydrolysis of intracellular triglyceride (TG). Genetic ATGL deficiency is a rare multi-systemic neutral lipid storage disease. Information regarding its clinical profile and pathophysiology, particularly for cardiac involvement, is still very limited. A previous middle-aged ATGL-deficient patient in our institute (Case 1) with...

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PMID: 24332944
DOI: 10.1016/j.bbrc.2013.12.003

Genes

PNPLA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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