Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Lucienne M et al.
Human Molecular Genetics, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives.
Keller SA et al.
Cells, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Luciani A et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (Mut-ko/ki) of methylmalonic aciduria.
Lucienne M et al.
Jimd Reports, 2021
Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle.
Chen Z et al.
Cell Stress, 2020
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Lucienne M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Luciani A et al.
Nature Communications, 2020
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2019
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P et al.
The Journal of Biological Chemistry, 2016
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P et al.
Human Mutation, 2016
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Forny P et al.
Human Mutation, 2014
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
Lempp TJ et al.
Molecular Genetics and Metabolism, 2007
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C et al.
Human Mutation, 2005