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Page 1
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: shriver lp. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. Genet Med. 2024. PMID: 38767059
Cytosolic and mitochondrial NADPH fluxes are independently regulated.
Niu X, Stancliffe E, Gelman SJ, Wang L, Schwaiger-Haber M, Rowles JL 3rd, Shriver LP, Patti GJ. Niu X, et al. Among authors: shriver lp. Nat Chem Biol. 2023 Jul;19(7):837-845. doi: 10.1038/s41589-023-01283-9. Epub 2023 Mar 27. Nat Chem Biol. 2023. PMID: 36973440
Dietary fructose enhances tumour growth indirectly via interorgan lipid transfer.
Fowle-Grider R, Rowles JL 3rd, Shen I, Wang Y, Schwaiger-Haber M, Dunham AJ, Jayachandran K, Inkman M, Zahner M, Naser FJ, Jackstadt MM, Spalding JL, Chiang S, McCommis KS, Dolle RE, Kramer ET, Zimmerman SM, Souroullas GP, Finck BN, Shriver LP, Kaufman CK, Schwarz JK, Zhang J, Patti GJ. Fowle-Grider R, et al. Among authors: shriver lp. Nature. 2024 Dec;636(8043):737-744. doi: 10.1038/s41586-024-08258-3. Epub 2024 Dec 4. Nature. 2024. PMID: 39633044
Uridine-derived ribose fuels glucose-restricted pancreatic cancer.
Nwosu ZC, Ward MH, Sajjakulnukit P, Poudel P, Ragulan C, Kasperek S, Radyk M, Sutton D, Menjivar RE, Andren A, Apiz-Saab JJ, Tolstyka Z, Brown K, Lee HJ, Dzierozynski LN, He X, Ps H, Ugras J, Nyamundanda G, Zhang L, Halbrook CJ, Carpenter ES, Shi J, Shriver LP, Patti GJ, Muir A, Pasca di Magliano M, Sadanandam A, Lyssiotis CA. Nwosu ZC, et al. Among authors: shriver lp. Nature. 2023 Jun;618(7963):151-158. doi: 10.1038/s41586-023-06073-w. Epub 2023 May 17. Nature. 2023. PMID: 37198494 Free PMC article.
65 results