Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect-Reference-Cited by-同舟云学术

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Published:2016-09 Issue:39 Volume:291 Page:20563-20573
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Forny Patrick,Schumann Anke,Mustedanagic Merima,Mathis Déborah,Wulf Marie-Angela,Nägele Nadine,Langhans Claus-Dieter,Zhakupova Assem,Heeren Joerg,Scheja Ludger,Fingerhut Ralph,Peters Heidi L.,Hornemann Thorsten,Thony Beat,Kölker Stefan,Burda Patricie,Froese D. Sean,Devuyst Olivier,Baumgartner Matthias R.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference44 articles.

1. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain;Kölker;J. Biol. Chem,2003

2. Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins;Schwab;Biochem. J,2006

3. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB);Hörster;Pediat. Res,2007

4. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters;Hörster;J. Inherit. Metab. Dis,2009

5. Long-term outcome in methylmalonic aciduria: a series of 30 French patients;Cosson;Mol. Genet. Metab,2009

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia;Frontiers in Genetics;2024-07-15

2. Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability;Genetics Selection Evolution;2024-02-29

3. Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability;eBioMedicine;2024-01

4. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria;Human Molecular Genetics;2023-06-27

5. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia;Journal of Inherited Metabolic Disease;2023-06-06