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Destabilization of β Cell FIT2 by saturated fatty acids alter lipid droplet numbers and contribute to ER stress and diabetes.
Zheng X, Ho QWC, Chua M, Stelmashenko O, Yeo XY, Muralidharan S, Torta F, Chew EGY, Lian MM, Foo JN, Jung S, Wong SH, Tan NS, Tong N, Rutter GA, Wenk MR, Silver DL, Berggren PO, Ali Y. Zheng X, et al. Among authors: wenk mr. Proc Natl Acad Sci U S A. 2022 Mar 15;119(11):e2113074119. doi: 10.1073/pnas.2113074119. Epub 2022 Mar 7. Proc Natl Acad Sci U S A. 2022. PMID: 35254894 Free PMC article.
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: wenk mr. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
379 results