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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: ludwig t. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
iPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua H, Shang L, Martinez H, Freeby M, Gallagher MP, Ludwig T, Deng L, Greenberg E, Leduc C, Chung WK, Goland R, Leibel RL, Egli D. Hua H, et al. Among authors: ludwig t. J Clin Invest. 2013 Jul;123(7):3146-53. doi: 10.1172/JCI67638. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778137 Free PMC article. Retracted.
iPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua H, Shang L, Martinez H, Freeby M, Gallagher MP, Ludwig T, Deng L, Greenberg E, LeDuc C, Chung WK, Goland R, Leibel RL, Egli D. Hua H, et al. Among authors: ludwig t. J Clin Invest. 2017 Mar 1;127(3):1115. doi: 10.1172/JCI92775. Epub 2017 Jan 17. J Clin Invest. 2017. PMID: 28094769 Free PMC article. No abstract available.
High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H. Lucas AL, et al. Among authors: ludwig t. Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8. Clin Cancer Res. 2013. PMID: 23658460 Free PMC article.
Generation of pluripotent stem cells from patients with type 1 diabetes.
Maehr R, Chen S, Snitow M, Ludwig T, Yagasaki L, Goland R, Leibel RL, Melton DA. Maehr R, et al. Among authors: ludwig t. Proc Natl Acad Sci U S A. 2009 Sep 15;106(37):15768-73. doi: 10.1073/pnas.0906894106. Epub 2009 Aug 31. Proc Natl Acad Sci U S A. 2009. PMID: 19720998 Free PMC article.
Hypomethylating therapy in an aggressive stroma-rich model of pancreatic carcinoma.
Shakya R, Gonda T, Quante M, Salas M, Kim S, Brooks J, Hirsch S, Davies J, Cullo A, Olive K, Wang TC, Szabolcs M, Tycko B, Ludwig T. Shakya R, et al. Among authors: ludwig t. Cancer Res. 2013 Jan 15;73(2):885-96. doi: 10.1158/0008-5472.CAN-12-1880. Epub 2012 Nov 29. Cancer Res. 2013. PMID: 23204224 Free PMC article.
418 results