Genomes and Genes
Experts and Doctors on amino acid oxidoreductases in Boston, Massachusetts, United States
Locale: Boston, Massachusetts, United States
Topic: amino acid oxidoreductases
- Busconi L, Michel T. Endothelial nitric oxide synthase. N-terminal myristoylation determines subcellular localization. J Biol Chem. 1993;268:8410-3 pubmed..N-terminal myristoylation of the endothelial NO synthase may provide a potential point of regulation of the biological functions of endothelium-derived NO in situ. ..
- Iftikhar M, Hurtado P, Bais M, Wigner N, Stephens D, Gerstenfeld L, et al. Lysyl oxidase-like-2 (LOXL2) is a major isoform in chondrocytes and is critically required for differentiation. J Biol Chem. 2011;286:909-18 pubmed publisher..LOXL2 promotes chondrocyte differentiation by mechanisms that are likely to include roles as both a regulator and an effector of chondrocyte differentiation. ..
- Wiggs J, Pawlyk B, Connolly E, Adamian M, Miller J, Pasquale L, et al. Disruption of the blood-aqueous barrier and lens abnormalities in mice lacking lysyl oxidase-like 1 (LOXL1). Invest Ophthalmol Vis Sci. 2014;55:856-64 pubmed publisher..These results show that mice lacking LOXL1 have some ES features but that complete disease manifestation requires other factors that could be genetic and/or environmental. ..
- Aung T, Ozaki M, Lee M, Schlötzer Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993-1004 pubmed publisher..3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology. ..