Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

France Demaugre, Jean‐Paul Bonnefont, Marco Colonna, +3

Journal of Clinical Investigation

Metabolic DisorderSudden DeathPathologyMetabolic SyndromeSkeletal Muscle +14

Hepatitis C virus core protein binds to apolipoprotein AII and its secretion is modulated by fibrates

Abdelmajid Sabile, Gabriel Perlemuter, Fulvia Bono, +7

Hepatology

Virus StructureProteinlipid InteractionSignal TransductionMolecular VirologyBiochemistry +13

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

France Demaugre, Jean‐Paul Bonnefont, Grant Mitchell, +5

Pediatric Research

HepatologyBiochemistryMuscular PresentationsLiver PhysiologyInherited Metabolic Disease +6

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

S.V. Pande, M. Brivet, Abdelhamid Slama, +3

Journal of Clinical Investigation

Electrolyte DisorderMetabolic DisorderOxidative StressMetabolic SyndromePermeabilized Fibroblasts +15

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Laure Thuillier, Hidayeth Rostane, Véronique Droin, +7

Human Mutation

Lcfa OxidationMetabolic DisorderGeneticsClinical PresentationHuman Polymorphism +18

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

Jean‐Paul Bonnefont, Franco Taroni, Patrizia Cavadini, +5

PubMed

Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/ΔF508‐CFTR to the plasma membrane

Noélie Davezac, Danielle Tondelier, Joanna Lipecka, +7

PROTEOMICS

Protein SecretionGeneticsImmunologyProtein GeneticsCellular Physiology +19

Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency

Zipora C. Falik-Borenstein, Stanley C. Jordan, Jean‐Marie Saudubray, +4

New England Journal of Medicine

Fatal IOxidative StressMetabolic SyndromeRenal FunctionChronic Kidney Disease +15

Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Carina Prip‐Buus, Laure Thuillier, Nourredine Abadi, +12

Molecular Genetics and Metabolism

BiotransformationCellular EnzymologyBiochemistryBiochemical TaxonomyMedicine +6

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

Stéphanie Gobin, Jean‐Paul Bonnefont, Carina Prip‐Buus, +14

Human Genetics

BiochemistryGenetic DisorderNatural SciencesGeneticsNovel Mutations +6