Research Summary
Dr. Kratz's research focuses on inborn errors of metabolism. One particular area of interest involves disorders of cholesterol biosynthesis including Smith-Lemli-Opitz syndrome, desmosterolosis, x-linked dominant Conradi Hünermann syndrome, and CHILD sequence. She is also interested in disorders of creatine synthesis and transport, Barth syndrome and mevalonate kinase deficiency.
Selected Publications
Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF. “Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.” Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94.
Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. “Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.” J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6.
Gauthier N, Wu JW, Wang SP, Allard P, Mamer OA, Sweetman L, Moser AB, Kratz L, Alvarez F, Robitaille Y, Lépine F, Mitchell GA. “A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.” PLoS One. 2013 Jul 5;8(7):e60581. doi: 10.1371/journal.pone.0060581. Print 2013.
Sukhanova A, Gorin A, Serebriiskii IG, Gabitova L, Zheng H, Restifo D, Egleston BL, Cunningham D, Bagnyukova T, Liu H, Nikonova A, Adams GP, Zhou Y, Yang DH, Mehra R, Burtness B, Cai KQ, Klein-Szanto A, Kratz LE, Kelley RI, Weiner LM, Herman GE, Golemis EA, Astsaturov I. “Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.” Cancer Discov. 2013 Jan;3(1):96-111. doi: 10.1158/2159-8290.CD-12-0031. Epub 2012 Nov 2.
Herman GE, Kratz L. “Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.” Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):301-21. doi: 10.1002/ajmg.c.31340. Epub 2012 Oct 5.
