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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: mizushima n. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Organelle degradation in the lens by PLAAT phospholipases.
Morishita H, Eguchi T, Tsukamoto S, Sakamaki Y, Takahashi S, Saito C, Koyama-Honda I, Mizushima N. Morishita H, et al. Among authors: mizushima n. Nature. 2021 Apr;592(7855):634-638. doi: 10.1038/s41586-021-03439-w. Epub 2021 Apr 14. Nature. 2021. PMID: 33854238
Autophagy genes in biology and disease.
Yamamoto H, Zhang S, Mizushima N. Yamamoto H, et al. Among authors: mizushima n. Nat Rev Genet. 2023 Jun;24(6):382-400. doi: 10.1038/s41576-022-00562-w. Epub 2023 Jan 12. Nat Rev Genet. 2023. PMID: 36635405 Free PMC article. Review.
A protein conjugation system essential for autophagy.
Mizushima N, Noda T, Yoshimori T, Tanaka Y, Ishii T, George MD, Klionsky DJ, Ohsumi M, Ohsumi Y. Mizushima N, et al. Nature. 1998 Sep 24;395(6700):395-8. doi: 10.1038/26506. Nature. 1998. PMID: 9759731
A ubiquitin-like system mediates protein lipidation.
Ichimura Y, Kirisako T, Takao T, Satomi Y, Shimonishi Y, Ishihara N, Mizushima N, Tanida I, Kominami E, Ohsumi M, Noda T, Ohsumi Y. Ichimura Y, et al. Among authors: mizushima n. Nature. 2000 Nov 23;408(6811):488-92. doi: 10.1038/35044114. Nature. 2000. PMID: 11100732
A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells.
Cadwell K, Liu JY, Brown SL, Miyoshi H, Loh J, Lennerz JK, Kishi C, Kc W, Carrero JA, Hunt S, Stone CD, Brunt EM, Xavier RJ, Sleckman BP, Li E, Mizushima N, Stappenbeck TS, Virgin HW 4th. Cadwell K, et al. Among authors: mizushima n. Nature. 2008 Nov 13;456(7219):259-63. doi: 10.1038/nature07416. Epub 2008 Oct 5. Nature. 2008. PMID: 18849966 Free PMC article.
340 results