PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 31448845-5 2020 Although a single recessive variant in CRAT has been recently associated with neurodegeneration with brain iron accumulation, our study reports the first kinetic analysis of naturally occurring CRAT variants and demonstrates the genetic basis of carnitine acetyltransferase deficiency in a case of mitochondrial encephalopathy. Iron 107-111 carnitine O-acetyltransferase Homo sapiens 39-43 31448845-5 2020 Although a single recessive variant in CRAT has been recently associated with neurodegeneration with brain iron accumulation, our study reports the first kinetic analysis of naturally occurring CRAT variants and demonstrates the genetic basis of carnitine acetyltransferase deficiency in a case of mitochondrial encephalopathy. Iron 107-111 carnitine O-acetyltransferase Homo sapiens 194-198 29395073-3 2018 After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the abnormal recycling of transferrin receptor (TfR1) and the reduction of TfR1 palmitoylation in NBIA. Iron 136-140 carnitine O-acetyltransferase Homo sapiens 109-113