Associated Papers
Protein succinylation in tumors-from biology to clinical therapy.
Li H et al.
International Journal of Biological Macromolecules, 2026
The role of succinylation-mediated metabolic reprogramming in tumor progression.
He S et al.
Molecular Biology Reports, 2025
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC et al.
Molecular Genetics and Metabolism Reports, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Succinate metabolism: a promising therapeutic target for inflammation, ischemia/reperfusion injury and cancer.
Zhang W et al.
Frontiers in Cell and Developmental Biology, 2023
Post-Translational Modifications by Lipid Metabolites during the DNA Damage Response and Their Role in Cancer.
Zhu G et al.
Biomolecules, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
Bernhardt I et al.
Jimd Reports, 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D et al.
Frontiers in Genetics, 2022
Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.
Gan Y et al.
Italian Journal of Pediatrics, 2021
Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency.
Zhang W et al.
Frontiers in Pediatrics, 2021
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.
Schlaepfer IR et al.
Endocrinology, 2020
Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
Phowthongkum P et al.
Clinical and Molecular Hepatology, 2019
CPT1A plays a key role in the development and treatment of multiple sclerosis and experimental autoimmune encephalomyelitis.
Mørkholt AS et al.
Scientific Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Carnitine Palmitoyltransferase 1A Has a Lysine Succinyltransferase Activity.
Kurmi K et al.
Cell Reports, 2018
Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.
Fohner AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.
Choi JS et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2016
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Doshi BS et al.
American Journal of Blood Research, 2014
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
Roomets E et al.
The Journal of Pediatrics, 2012
Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.
Rajakumar C et al.
Journal of Lipid Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2008
Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.
Morillas M et al.
The Biochemical Journal, 2004
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
Gobin S et al.
The Journal of Biological Chemistry, 2003
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Gobin S et al.
Human Genetics, 2002
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
Brown NF et al.
Journal of Lipid Research, 2001
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Prip-Buus C et al.
Molecular Genetics and Metabolism, 2001
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
Prasad C et al.
Molecular Genetics and Metabolism, 2001
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
Collins SA et al.
Molecular Genetics and Metabolism, 0