0000000000384877

AUTHOR

Thierry Levade

showing 3 related works from this author

Recommendations on the diagnosis and management of Niemann-Pick disease type C

2009

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the a…

Adultmedicine.medical_specialtyNeurology1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistry03 medical and health sciencesDysarthriaYoung Adult0302 clinical medicineEndocrinology1311 GeneticsGeneticsLysosomal storage diseasemedicine1312 Molecular BiologyDementiaHumansMass ScreeningIntensive care medicineChildMolecular BiologyMass screening030304 developmental biology0303 health sciencesNiemann–Pick disease type Cbusiness.industryInfant NewbornInfantNiemann-Pick Disease Type CMiddle Agedmedicine.disease3. Good health1310 Endocrinology2712 Endocrinology Diabetes and Metabolism10036 Medical ClinicChild PreschoolPhysical therapyGait Ataxiamedicine.symptombusiness030217 neurology & neurosurgery
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Apelin treatment increases complete Fatty Acid oxidation, mitochondrial oxidative capacity, and biogenesis in muscle of insulin-resistant mice.

2012

Both acute and chronic apelin treatment have been shown to improve insulin sensitivity in mice. However, the effects of apelin on fatty acid oxidation (FAO) during obesity-related insulin resistance have not yet been addressed. Thus, the aim of the current study was to determine the impact of chronic treatment on lipid use, especially in skeletal muscles. High-fat diet (HFD)-induced obese and insulin-resistant mice treated by an apelin injection (0.1 μmol/kg/day i.p.) during 4 weeks had decreased fat mass, glycemia, and plasma levels of triglycerides and were protected from hyperinsulinemia compared with HFD PBS-treated mice. Indirect calorimetry experiments showed that apelin-treated mice…

MESH: Oxidation-Reduction[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionEndocrinology Diabetes and MetabolismGlucose uptakeAMP-Activated Protein KinasesInbred C57BLMice0302 clinical medicineAMP-activated protein kinaseMESH : Lipid MetabolismHyperinsulinemiaMESH: AnimalsMESH: AMP-Activated Protein KinasesMESH : Muscle SkeletalMESH : Fatty AcidsBeta oxidationMESH: Lipid Metabolism0303 health sciencesMESH: Muscle SkeletalbiologyMESH : Diet High-FatFatty AcidsMESH: Energy MetabolismMESH : AMP-Activated Protein KinasesMESH: Mitochondria MuscleSkeletal3. Good healthApelinMitochondriaMESH: Fatty AcidsMESH : Cyclic AMP-Dependent Protein KinasesMESH: Insulin ResistanceAlimentation et NutritionApelinIntercellular Signaling Peptides and ProteinsMuscleMESH : Insulin ResistanceOxidation-Reductionmedicine.medical_specialtyMESH : Mitochondria Muscle030209 endocrinology & metabolismMESH : Mice Inbred C57BLMESH: Cyclic AMP-Dependent Protein KinasesDiet High-Fat03 medical and health sciencesInsulin resistanceAdipokinesMESH: Mice Inbred C57BLInternal medicineMESH : MiceInternal MedicinemedicineFood and NutritionAnimalsMuscle SkeletalMESH: Intercellular Signaling Peptides and ProteinsMESH: MiceMESH : Intercellular Signaling Peptides and Proteins030304 developmental biologyMESH : Oxidation-ReductionAMPKmedicine.diseaseLipid MetabolismCyclic AMP-Dependent Protein KinasesMitochondria MuscleDietMice Inbred C57BLMESH : Energy Metabolism[SDV.AEN] Life Sciences [q-bio]/Food and NutritionAMP-Activated Protein Kinases;Animals;Cyclic AMP-Dependent Protein Kinases;Diet;High-Fat;Energy Metabolism;Fatty Acids;Insulin Resistance;Intercellular Signaling Peptides and Proteins;Lipid Metabolism;Mice;Inbred C57BL;Mitochondria;Muscle;Skeletal;Oxidation-ReductionHigh-FatMESH: Diet High-FatMetabolismEndocrinologyMitochondrial biogenesisbiology.proteinMESH : AnimalsInsulin ResistanceEnergy Metabolism[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
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Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Mor…

2001

An inherited deficiency in beta-galactosidase can result in GM1 gangliosidosis, with several phenotypes of generalized or chronic psychomotor deterioration, as well as in Morquio disease type B, a characteristic mucopolysaccharidosis free of neurological symptoms. We performed mutation analyses in 17 juvenile and adult patients from various European regions with a deficiency in beta-galactosidase and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and have remained neurologically healthy until now while the two others exhibited psychomotor retardation of juvenile onset. A two-base substitution (851-852TG--CT; W273L) was present in 14 of the 15 Morquio B cases. Even if o…

AdultMaleAdolescentMucopolysaccharidosisDNA Mutational AnalysisRestriction MappingMutation MissenseBiologyGeneticsmedicineHumansPoint MutationMissense mutationRNA MessengerChildGenetics (clinical)DNA PrimersGeneticsPsychomotor retardationReverse Transcriptase Polymerase Chain ReactionPoint mutationMucopolysaccharidosis IVHeterozygote advantageMiddle Agedbeta-Galactosidasemedicine.diseasePhenotypePedigreePhenotypeGLB1Child PreschoolMutation (genetic algorithm)Femalemedicine.symptomHuman Genetics
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