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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. Ni M, et al. Among authors: pan c. Genet Med. 2021 May;23(5):900-908. doi: 10.1038/s41436-020-01071-z. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473208 Free PMC article.
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Ni M, Solmonson A, Pan C, Yang C, Li D, Notzon A, Cai L, Guevara G, Zacharias LG, Faubert B, Vu HS, Jiang L, Ko B, Morales NM, Pei J, Vale G, Rakheja D, Grishin NV, McDonald JG, Gotway GK, McNutt MC, Pascual JM, DeBerardinis RJ. Ni M, et al. Among authors: pan c. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005. Cell Rep. 2019. PMID: 31042466 Free PMC article.
Compartmentalized metabolism supports midgestation mammalian development.
Solmonson A, Faubert B, Gu W, Rao A, Cowdin MA, Menendez-Montes I, Kelekar S, Rogers TJ, Pan C, Guevara G, Tarangelo A, Zacharias LG, Martin-Sandoval MS, Do D, Pachnis P, Dumesnil D, Mathews TP, Tasdogan A, Pham A, Cai L, Zhao Z, Ni M, Cleaver O, Sadek HA, Morrison SJ, DeBerardinis RJ. Solmonson A, et al. Among authors: pan c. Nature. 2022 Apr;604(7905):349-353. doi: 10.1038/s41586-022-04557-9. Epub 2022 Apr 6. Nature. 2022. PMID: 35388219 Free PMC article.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Cai L, Vu HS, Gu W, Chen H, Franklin J, Haidar LA, Wu Z, Pan C, Cai F, Nguyen P, Ko B, Yang C, Zacharias LG, Sudderth J, Montgomery S, Uhles C, Fisher H, Hudnall J, Hornbuckle C, Quinn C, Michel D, Umaña L, Scheuerle A, McNutt MC, Gotway GK, Afroze B, Ni M, DeBerardinis R. Cai L, et al. Among authors: pan c. bioRxiv [Preprint]. 2023 Dec 12:2023.12.11.571124. doi: 10.1101/2023.12.11.571124. bioRxiv. 2023. PMID: 38168314 Free PMC article. Preprint.
Electron transport chain inhibition increases cellular dependence on purine transport and salvage.
Wu Z, Bezwada D, Harris RC, Pan C, Nguyen PT, Faubert B, Cai L, Cai F, Vu HS, Chen H, Sandoval MM, Do D, Gu W, Zhang Y, Ko B, Brooks B, Kelekar S, Zhang Y, Zacharias LG, Oaxaca KC, Mathews TP, Garcia-Bermudez J, Ni M, DeBerardinis RJ. Wu Z, et al. Among authors: pan c. bioRxiv [Preprint]. 2023 May 11:2023.05.11.540429. doi: 10.1101/2023.05.11.540429. bioRxiv. 2023. PMID: 37214913 Free PMC article. Preprint.
7,790 results