The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets - PubMed

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder.

Li M, Hirano KI, Ikeda Y, Higashi M, Hashimoto C, Zhang B, Kozawa J, Sugimura K, Miyauchi H, Suzuki A, Hara Y, Takagi A, Ikeda Y, Kobayashi K, Futsukaichi Y, Zaima N, Yamaguchi S, Shrestha R, Nakamura H, Kawaguchi K, Sai E, Hui SP, Nakano Y, Sawamura A, Inaba T, Sakata Y, Yasui Y, Nagasawa Y, Kinugawa S, Shimada K, Yamada S, Hao H, Nakatani D, Ide T, Amano T, Naito H, Nagasaka H, Kobayashi K; Japan TGCV study group. Li M, et al. Orphanet J Rare Dis. 2019 Jun 11;14(1):134. doi: 10.1186/s13023-019-1087-4. Orphanet J Rare Dis. 2019. PMID: 31186072 Free PMC article.