Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

Salvatore DiMauro, Paola M. Melis DiMauro · Science · 1973 · 478 citations

Mitochondrial Myopathy, Metabolic Syndrome, Energy Metabolism +13

Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane.

M S Murthy, S.V. Pande · Proceedings of the National Academy of Sciences · 1987 · 243 citations · Full text

Malonyl-coa Binding Site, Molecular Biology, Chemical Biology +17

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

Franco Taroni, Elisabetta Verderio, F. Dworzak et al. · Nature Genetics · 1993 · 200 citations

Mendelian Disorder, Common Mutation, Medicine +9

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Franco Taroni, Elisabetta Verderio, S Fiorucci et al. · Proceedings of the National Academy of Sciences · 1992 · 155 citations · Full text

Metabolic Syndrome, Molecular Characterization, Mendelian Disorder +15

Crystal Structure of Carnitine Acetyltransferase and Implications for the Catalytic Mechanism and Fatty Acid Transport

G. Jogl, Liang Tong · Cell · 2003 · 148 citations · Full text

Crystal Structure, Biosynthesis, Carnitine Acetyltransferase +7