Results 11 to 20 of about 1,993 (190)
The Ubiquitin Ligase CBLC Maintains the Network Organization of the Golgi Apparatus. [PDF]
PLoS ONE, 2015 The Golgi apparatus plays a pivotal role in the sorting and post-translational modifications of secreted and membrane proteins. In mammalian cells, the Golgi is organized in stacks of cisternae linked together to form a network with a ribbon shape ...
Wan Yin Lee +5 more
doaj +6 more sources
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients [PDF]
Nature Communications, 2018 Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at ...
Jean-Louis Guéant +30 more
doaj +10 more sources
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
Orphanet Journal of Rare DiseasesIntroduction Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult.
Loredana Arhip +6 more
doaj +8 more sources
Characterization of the mouse Cblc/Cbl3 gene [PDF]
Biochemical and Biophysical Research Communications, 2001 The mouse Cblc/Cbl3 gene was cloned and characterized. It comprises 12 exons and encodes a putative protein of 496 amino acid residues which shares an overall 67% identity with its human ortholog; it also shares 70% of amino acid identity with mouse CBL ...
Fiore, Frédéric +2 more
core +5 more sources
Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis
Journal of Pediatric and Neonatal Individualized Medicine, 2015 Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu +4 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2022 Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney.
Apolline Imbard +14 more
doaj +2 more sources
Epimutation of MMACHC compound to a genetic mutation in cblC cases [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene ...
Xiaoman Zhang +10 more
doaj +3 more sources
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients [PDF]
Nature Communications, 2018 The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'.
Jean-Louis Guéant +30 more
doaj +2 more sources
Renal thrombotic microangiopathy in patients with cblC defect:review of an under-recognized entity [PDF]
Pediatric Nephrology, 2017 Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B-12) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly,
Kömhoff, Martin +4 more
core +5 more sources
MetabolitesMethylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation.
Anna Sidorina +4 more
doaj +2 more sources