TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Shafqat, Naeem
A1  - Kavanagh, Kate L.
A1  - Sass, Jörn Oliver
A1  - Christensen, Ernst
A1  - Fukao, Toshiyuki
A1  - Lee, Wen Hwa
A1  - Oppermann, Udo
A1  - Yue, Wyatt W.
T1  - A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
JF  - Journal of Inherited Metabolic Disease
N2  - Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SCOT catalyzes the first, rate-limiting step of ketone body utilization in peripheral tissues, by transferring a CoA moiety from succinyl-CoA to form acetoacetyl-CoA, for entry into the tricarboxylic acid cycle for energy production. We have determined the crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects. An interactive version of this manuscript (which may contain additional mutations appended after acceptance of this manuscript) may be found on the web address: 
http://www.thesgc.org/jimd/SCOT
SN  - 0141-8955
SS  - 0141-8955
U6  - https://doi.org/10.1007/s10545-013-9589-z
DO  - https://doi.org/10.1007/s10545-013-9589-z
PM  - 23420214
VL  - 36
IS  - 6
SP  - 983
EP  - 987
PB  - Springer Netherlands
CY  - Dordrecht
ER  -