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Mucolipidosis type IV and the mucolipins.
Bach G, Zeevi DA, Frumkin A, Kogot-Levin A. Bach G, et al. Biochem Soc Trans. 2010 Dec;38(6):1432-5. doi: 10.1042/BST0381432. Biochem Soc Trans. 2010. PMID: 21118102
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. Among authors: kogot levin a. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314
Ceramide and the mitochondrial respiratory chain.
Kogot-Levin A, Saada A. Kogot-Levin A, et al. Biochimie. 2014 May;100:88-94. doi: 10.1016/j.biochi.2013.07.027. Epub 2013 Aug 9. Biochimie. 2014. PMID: 23933096 Review.
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D. Stepensky P, et al. Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18. Blood. 2013. PMID: 23599270 Free article.
Development of pheochromocytoma in ceramide synthase 2 null mice.
Park WJ, Brenner O, Kogot-Levin A, Saada A, Merrill AH Jr, Pewzner-Jung Y, Futerman AH. Park WJ, et al. Among authors: kogot levin a. Endocr Relat Cancer. 2015 Aug;22(4):623-32. doi: 10.1530/ERC-15-0058. Epub 2015 Jun 25. Endocr Relat Cancer. 2015. PMID: 26113602 Free PMC article.
18 results