Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR
Gabitova, Linara, Restifo, Diana, Gorin, Andrey, Manocha, Kunal, Handorf, Elizabeth, Yang, Dong-Hua, Cai, Kathy Q., Klein-Szanto, Andres J., Cunningham, David, Kratz, Lisa E., Herman, Gail E., Golemis, Erica A., Astsaturov, Igor
Published in Cell reports (Cambridge) (22.09.2015)
Published in Cell reports (Cambridge) (22.09.2015)
Get full text
Journal Article
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo
Stottmann, Rolf W, Turbe-Doan, Annick, Tran, Pamela, Kratz, Lisa E, Moran, Jennifer L, Kelley, Richard I, Beier, David R
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
Get full text
Journal Article
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain
Driver, Ashley M, Kratz, Lisa E, Kelley, Richard I, Stottmann, Rolf W
Published in Neurobiology of disease (01.07.2016)
Published in Neurobiology of disease (01.07.2016)
Get full text
Journal Article
Elevated creatinine in a patient on IVIG-therapy
Knezevic, Claire E., Ness, Mary Ann, Kratz, Lisa E., Marzinke, Mark A.
Published in Clinica chimica acta (01.11.2018)
Published in Clinica chimica acta (01.11.2018)
Get full text
Journal Article
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Poll, Sarah R, Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S, Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D, Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L, Sobreira, Nara L M
Published in PLoS genetics (08.12.2022)
Published in PLoS genetics (08.12.2022)
Get full text
Journal Article
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
He, Miao, Kratz, Lisa E, Michel, Joshua J, Vallejo, Abbe N, Ferris, Laura, Kelley, Richard I, Hoover, Jacqueline J, Jukic, Drazen, Gibson, K Michael, Wolfe, Lynne A, Ramachandran, Dhanya, Zwick, Michael E, Vockley, Jerry
Published in The Journal of clinical investigation (01.03.2011)
Published in The Journal of clinical investigation (01.03.2011)
Get full text
Journal Article
Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome
Herman, Gail E., Kratz, Lisa
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2012)
Get full text
Journal Article
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits
Tierney, Elaine, Remaley, Alan T., Thurm, Audrey, Jager, Leah R., Wassif, Christopher A., Kratz, Lisa E., Bailey-Wilson, Joan E., Bukelis, Irena, Sarphare, Geeta, Jung, Eun Sol, Brand, Boudewien, Noah, Kelly K., Porter, Forbes D.
Published in Translational psychiatry (09.09.2021)
Published in Translational psychiatry (09.09.2021)
Get full text
Journal Article
A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern
Gauthier, Nicolas, Wu, Jiang Wei, Wang, Shu Pei, Allard, Pierre, Mamer, Orval A, Sweetman, Lawrence, Moser, Ann B, Kratz, Lisa, Alvarez, Fernando, Robitaille, Yves, Lépine, François, Mitchell, Grant A
Published in PloS one (05.07.2013)
Published in PloS one (05.07.2013)
Get full text
Journal Article
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders
Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F
Published in Orphanet journal of rare diseases (25.06.2014)
Published in Orphanet journal of rare diseases (25.06.2014)
Get full text
Journal Article
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner
Clark, Paul J., Thompson, Alexander J., Vock, David M., Kratz, Lisa E., Tolun, Adviye A., Muir, Andrew J., McHutchison, John G., Subramanian, Mani, Millington, David M., Kelley, Richard I., Patel, Keyur
Published in Hepatology (Baltimore, Md.) (01.07.2012)
Published in Hepatology (Baltimore, Md.) (01.07.2012)
Get full text
Journal Article
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation
Sukhanova, Anna, Gorin, Andrey, Serebriiskii, Ilya G, Gabitova, Linara, Zheng, Hui, Restifo, Diana, Egleston, Brian L, Cunningham, David, Bagnyukova, Tetyana, Liu, Hanqing, Nikonova, Anna, Adams, Gregory P, Zhou, Yan, Yang, Dong-Hua, Mehra, Ranee, Burtness, Barbara, Cai, Kathy Q, Klein-Szanto, Andres, Kratz, Lisa E, Kelley, Richard I, Weiner, Louis M, Herman, Gail E, Golemis, Erica A, Astsaturov, Igor
Published in Cancer discovery (01.01.2013)
Published in Cancer discovery (01.01.2013)
Get full text
Journal Article
Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder
Srinivasaraghavan, Rangan, Sharma, Suvasiniz, Kratz, Lisa, Malik, Prateek, Yoganathan, Sangeetha, Danda, Sumita, Oommen, Samuel
Published in Annals of the Indian Academy of Neurology (01.11.2021)
Published in Annals of the Indian Academy of Neurology (01.11.2021)
Get full text
Journal Article
Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes
Edmunds, Lia R, Otero, P Anthony, Sharma, Lokendra, D'Souza, Sonia, Dolezal, James M, David, Sherin, Lu, Jie, Lamm, Lauren, Basantani, Mahesh, Zhang, Pili, Sipula, Ian J, Li, Lucy, Zeng, Xuemei, Ding, Ying, Ding, Fei, Beck, Megan E, Vockley, Jerry, Monga, Satdarshan P S, Kershaw, Erin E, O'Doherty, Robert M, Kratz, Lisa E, Yates, Nathan A, Goetzman, Eric P, Scott, Donald, Duncan, Andrew W, Prochownik, Edward V
Published in Oncotarget (24.05.2016)
Published in Oncotarget (24.05.2016)
Get full text
Journal Article
Fumaric aciduria: A rare cause of refractory epilepsy
Yoganathan, Sangeetha, Srinivasaraghavan, Rangan, Kumar, Madhan, Kratz, Lisa, Mular, Shraddha, Sudhakar, Sniya, Malik, Prateek, Chandran, Mahalakshmi, Thomas, Maya, Danda, Sumita
Published in Annals of the Indian Academy of Neurology (01.07.2022)
Published in Annals of the Indian Academy of Neurology (01.07.2022)
Get full text
Journal Article
Abnormalities of cholesterol metabolism in autism spectrum disorders
Tierney, Elaine, Bukelis, Irena, Thompson, Richard E., Ahmed, Khalid, Aneja, Alka, Kratz, Lisa, Kelley, Richard I.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.09.2006)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.09.2006)
Get full text
Journal Article
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David
Published in JIMD reports (01.05.2023)
Published in JIMD reports (01.05.2023)
Get full text
Journal Article