Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

"in the crystal structure (pdb code 2ibw) residues pro37 to leu427 are well ordered and are included in the final model (haapalainen et al 2007 ) for each of the four chains of the tetramer.; stereo view is provided in figure s1 figure 6 the structure of the t2 tight dimer (pdb entry 2ibw) (a) top view (view approximately down the local two fold axis of the tight dimer) (b) side view (rotated by 90?; stereo views are provided in figure s2 figure 7 the structure of the t2 loop domain (residues156-286; pdb entry 2ibw) (a) top view (same as figure 6 a) (b) side view (same as figure 6 b)."

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

"FUNDING INFORMATION This research was supported by a Grant‐in‐Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (grant number 16K09962), by AMED under grant number JP17ek0109276, and by Health and Labor Sciences Research Grants (H29‐nanchitou(nan)‐ippan‐051) for research on rare and intractable diseases."