Results 141 to 150 of about 1,339 (150)

Glutathione Status in MMACHC Patients

Free Radical Biology and Medicine, 2012
Anna Pastore, Diego Martinelli, Fiorella Piemonte, Giulia Tozzi, Sara Boenzi, Gianna Di Giovamberardino, Sara Petrillo, Enrico Bertini, Carlo Dionisi-Vici   +8 more
openaire   +1 more source

Allelic expression of «MMACHC» and evidence for genotype-phenotype correlations in «cblC» disease

2010
Rosenblatt, David (Supervisor)
openaire   +1 more source

Structural Study of the Complex of cblC Methylmalonic Aciduria and Homocystinuria-Related Protein MMACHC With Cyanocobalamin

Crystals, 2022
Jianhua He, Qisheng Wang, Feng Yu
exaly  

A Regionally Adapted HRM-Based Technique to Screen MMACHC Carriers for Methylmalonic Acidemia With Homocystinuria in Shandong Province, China

Intractable and Rare Diseases Research, 2023
Mian Li, Yazhou Cui
exaly  

RESTORING MMACHC EXPRESSION: TRIDs AS A PROMISING APPROACH FOR cblC DEFICIENCY TREATMENT

Rare genetic diseases, often defined as ''orphan diseases'' due to their low influence and limited therapeutic options, have always represented a demanding challenge for research and medicine. Recent attention has focused on stop mutations, one of the different classes of mutations responsible for these pathologies.
Riccardo VARRICA, Silvia VILASI, Rosa PASSANTINO, Lisa LONGO, Anita SAMMARCO, Marco TUTONE, Sefora MARINO, Ivana PIBIRI, Laura LENTINI   +8 more
openaire   +1 more source

Spectrum of Mutations in MMACHC, Allelic Expression, and Evidence for Genotype–Phenotype Correlations

Human Mutation, 2009
Elin Grundberg, David Coelho, David S Rosenblatt   +2 more
exaly  

Interaction Between MMACHC and MMADHC, Two Human Proteins Participating in Intracellular Vitamin B12 Metabolism

Molecular Genetics and Metabolism, 2011
David S Rosenblatt, James W Coulton, Christopher Ng-Thow-Hing   +2 more
exaly  

Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)

Human Mutation, 2009
Celia Pérez-Cerdá, Antonia Ribes, Lourdes R Desviat   +2 more
exaly  

Missense Mutations in MMACHC Protein From cblC Disease Affect Its Conformational Stability and Vitamin B12-Binding Activity: The Example of R161Q Mutation

Molecular Genetics and Metabolism
Paula M Garcia-Franco
exaly  

Methylmalonioc aciduria: Molecular analysis of the MUT and MMACHC genes in 47 Italian patients

2008
Caicchi C, Donati A, Pasquini E, Parini R, Furlan F, Sibilio M, PARENTI, GIANCARLO, Dionisi Vici C, Bartuli A, Papadia F, Zammarchi E, Guerrini R, Morrone A.   +12 more
openaire   +1 more source