Methylmalonic acidurias (MMAurias) are a group of inherited disorders in the catabolism of branched-chain amino acids, odd-chain fatty acids and cholesterol caused by complete or partial deficiency of methylmalonyl-CoA mutase (mut0 and mut- subtype respectively) and by defects in the metabolism of its cofactor 5′-deoxyadenosylcobalamin (cblA, cblB or cblD variant 2 type). A long-term complication found in patients with mut0 and cblB variant is chronic tubulointerstitial nephritis. The underlying pathomechanism has remained unknown. We established an in vitro model of tubular epithelial cells from patient urine (hTEC; 9 controls, 5 mut0, 1 cblB). In all human tubular epithelial cell (hTEC) lines we found specific tubular markers (AQP1, UMOD,...
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spec...
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder ...
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually pr...
Methylmalonic acidurias (MMAurias) are a group of inherited disorders in the catabolism of branched-...
Methylmalonic acidurias represent a group of rare inborn errors of metabolism caused by deficient ac...
The aim of this study was to investigate the renal pathogenesis of chronic tubulointerstitial nephri...
Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are kn...
INTRODUCTION Long-term outcome is postulated to be different in isolated methylmalonic aciduria c...
Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalony...
Methylmalonic acidemia (MMA), caused by mutations in MUT, and propionic acidemia (PA), caused by mut...
Methylmalonic aciduria is caused by mutations affecting the mitochondrial enzyme methylmalonyl-CoA m...
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111812/1/cge12426.pd
The present PhD thesis project concerned the development of novel cellular models to be used for the...
Propionic aciduria (PA) is caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylas...
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Methylmalonic aciduria (MMA) cblB ...
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spec...
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder ...
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually pr...
Methylmalonic acidurias (MMAurias) are a group of inherited disorders in the catabolism of branched-...
Methylmalonic acidurias represent a group of rare inborn errors of metabolism caused by deficient ac...
The aim of this study was to investigate the renal pathogenesis of chronic tubulointerstitial nephri...
Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are kn...
INTRODUCTION Long-term outcome is postulated to be different in isolated methylmalonic aciduria c...
Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalony...
Methylmalonic acidemia (MMA), caused by mutations in MUT, and propionic acidemia (PA), caused by mut...
Methylmalonic aciduria is caused by mutations affecting the mitochondrial enzyme methylmalonyl-CoA m...
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111812/1/cge12426.pd
The present PhD thesis project concerned the development of novel cellular models to be used for the...
Propionic aciduria (PA) is caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylas...
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Methylmalonic aciduria (MMA) cblB ...
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spec...
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder ...
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually pr...