Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Youssef Boukaftane"'
Autor:
Charles A. Stanley, Andrew A. M. Morris, Marie-France Robert, Patti Quant, Lyudmila Ashmarina, James V. Leonard, Dmitriy A. Vinarov, Betty Y.L. Hsu, Youssef Boukaftane, Henry M. Miziorko, G. N. Thompson, Grant A. Mitchell, Luigi Bouchard, Shupei Wang, Avihu Boneh
Publikováno v:
Scopus-Elsevier
Hereditary deficiency of mitochondrial HMG-CoA synthase (mHS, OMIM 600234) is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia. We present clinical follow-up and molecular analy
Autor:
Marie-France Robert, Youssef Boukaftane, Grant A. Mitchell, Keith Schappert, Julie Sarrazin, Damian Labuda, Shupei Wang, Alessandra M.V. Duncan
Publikováno v:
Genomics. 23:552-559
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (mHS) is the first enzyme of ketogenesis, whereas the cytoplasmic HS isozyme (cHS) mediates an early step in cholesterol synthesis. We here report the sequence of human and mouse liver mHS cDNAs,
Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene
Autor:
Youssef Boukaftane, Grant A. Mitchell
Publikováno v:
Gene. 195(2)
We report the characterization of lambda and P1 phage clones containing the entire human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase ( mHS ) gene. The human mHS locus (HMGCS2) on chromosome 1p12-13 spans 25 kb and contains 10 exons. Exon 1