Associated Papers
Rewiring lipid Metabolism: The central role of CPT1 in metabolic dysfunction.
Ni D et al.
Progress in Biophysics and Molecular Biology, 2026
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Li X et al.
Npj Genomic Medicine, 2025
Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.
Helsley RN et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
From North Asia to South America: Tracing the longest human migration through genomic sequencing.
Gusareva ES et al.
Science (new York, N.y.), 2025
Mechanistic insights into impaired β-oxidation and its role in mitochondrial dysfunction: A comprehensive review.
Aqeel A et al.
Diabetes Research and Clinical Practice, 2025
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.
Drole Torkar A et al.
International Journal of Neonatal Screening, 2025
Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers Apolipoprotein B Containing Lipoproteins in Mice.
Helsley RN et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic Features of Lipid and Carbohydrate Metabolism in Arctic Peoples.
Malyarchuk BA
Biochemistry. Biokhimiia, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC et al.
Molecular Genetics and Metabolism Reports, 2024
A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.
Bene Watts S et al.
Frontiers in Pediatrics, 2024
Genetics of metabolic traits in Greenlanders.
Thuesen ACB et al.
Danish Medical Journal, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
Bernhardt I et al.
Jimd Reports, 2022
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA et al.
The Journal of Experimental Medicine, 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
Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut.
Collins SA et al.
Paediatrics & Child Health, 2021
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Downregulating carnitine palmitoyl transferase 1 affects disease progression in the SOD1 G93A mouse model of ALS.
Trabjerg MS et al.
Communications Biology, 2021
Identifying adaptive alleles in the human genome: from selection mapping to functional validation.
Werren EA et al.
Human Genetics, 2021
Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut.
Collins SA et al.
Frontiers in 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
Genetic variants for personalised management of very low carbohydrate ketogenic diets.
Aronica L et al.
Bmj Nutrition, Prevention & Health, 2020
Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet.
Senftleber N et al.
European Journal of Human Genetics : Ejhg, 2020
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Kim HI et al.
American Journal of Human Genetics, 2020
[Genetic markers on the distribution of ancient marine hunters in Priokhotye].
Malyarchuk BA
Vavilovskii Zhurnal Genetiki I Selektsii, 2020
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.
Schlaepfer IR et al.
Endocrinology, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
Graham Linck EJ et al.
Npj Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
How well do we understand the basis of classic selective sweeps in humans?
Szpak M et al.
Febs Letters, 2019
The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.
Sinclair G et al.
Paediatrics & Child Health, 2019
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K et al.
Journal of Human Genetics, 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
Genetics of metabolic traits in Greenlanders: lessons from an isolated population.
Andersen MK et al.
Journal of Internal Medicine, 2018
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Knottnerus SJG et al.
Reviews in Endocrine & Metabolic Disorders, 2018