genetic disorders • peroxisome diseases • mouse models • drug therapies • lipid metabolism
My research focuses on a group of inherited disorders caused by defects in the genes responsible for the proper function of peroxisomes, important components of cells that help to metabolize lipids, or fatty acids. Peroxisomal disorders cause a progressive disease of the nervous system, eye, hearing, bone, liver, kidney and adrenal glands. My laboratory engineers mouse models of the disorders to investigate how these enzyme defects cause disease. To provide patients and their families with better prognostic information and care, the laboratory has established a patient registry documenting variations in disease outcome and is identifying drugs and therapies that can improve outcomes.
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. Mol Genet Metab. 2014 Apr;111(4):522-32 PMID: 24503136.
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Braverman NE, D'Agostino MD, Maclean GE. Dev Disabil Res Rev. 2013;17(3):187-96 PMID: 23798008.
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE. BMC Med Genet. 2012 Aug 15;13:72.
Functions of plasmalogen lipids in health and disease. Braverman NE, Moser AB. Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. Review. PMID:22627108.
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N. Hum Mutat. 2012 Jan;33(1):189-97. PMID: 21990100.