CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome
Author:
Affiliation:
1. Department of Biosciences, Biotechnology and BiopharmaceuticsUniversity of Bari Bari Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23901
Reference21 articles.
1. Purification and properties of carnitine acetyltransferase from human liver
2. Mutagenesis of Specific Amino Acids Converts Carnitine Acetyltransferase into Carnitine Palmitoyltransferase
3. The Acetyl Group Buffering Action of Carnitine Acetyltransferase Offsets Macronutrient-Induced Lysine Acetylation of Mitochondrial Proteins
4. Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation?
5. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation
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