(Q35003560)

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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

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7 February 2020

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) (English)

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7 February 2020

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7 February 2020

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Antonia Ribes

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7 February 2020

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Paz Briones

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7 February 2020

Judit García-Villoria

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Judit Garcia-Villoria

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7 February 2020

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Laura Gort

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7 February 2020

Begoña Merinero

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Begoña Merinero

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7 February 2020

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Eva Richard

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7 February 2020

Ana Jorge-Finnigan

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7 February 2020

Lourdes R Desviat

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7 February 2020

Fátima Leal

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7 February 2020

Celia Pérez-Cerdá

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7 February 2020

Magdalena Ugarte

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7 February 2020

Belén Pérez

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7 February 2020

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1 November 2009

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7 February 2020

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7 February 2020

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7 February 2020

11

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7 February 2020

1558-1566

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7 February 2020

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

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Vitamin B6 suppresses apoptosis of NM-1 bovine endothelial cells induced by homocysteine and copper.

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Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease

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Oxidative stress in neurodegeneration: cause or consequence?

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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

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High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling.

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7 January 2021

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Late-onset cobalamin-C disorder: a challenging diagnosis.

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7 January 2021

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Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

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7 January 2021

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A novel role for vitamin B(12): Cobalamins are intracellular antioxidants in vitro

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7 January 2021

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Alpha-lipoic acid inhibits TNF-alpha-induced apoptosis in human bone marrow stromal cells

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7 January 2021

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Mitochondrial dysfunction in mut methylmalonic acidemia

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7 January 2021

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Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition

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7 January 2021

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Cerebral vascular dysfunction mediated by superoxide in hyperhomocysteinemic mice.

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7 January 2021

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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

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7 January 2021

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Hyperhomocysteinemia, oxidative stress, and cerebral vascular dysfunction

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7 January 2021

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Propionic and L-methylmalonic acids induce oxidative stress in brain of young rats.

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7 January 2021

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Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients.

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7 January 2021

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A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status.

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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

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Mutational spectrum of classical galactosaemia in Spain and Portugal.

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7 January 2021

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Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

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7 January 2021

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Elevation in S-Adenosylhomocysteine and DNA Hypomethylation: Potential Epigenetic Mechanism for Homocysteine-Related Pathology

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A rapid procedure for extracting genomic DNA from leukocytes

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7 January 2021

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Homocysteine enhances apoptosis in human bone marrow stromal cells

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7 January 2021

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Decyanation of vitamin B12 by a trafficking chaperone

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Homocysteine enhances bone resorption by stimulation of osteoclast formation and activity through increased intracellular ROS generation.

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Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

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Evaluation of the probe 2',7'-dichlorofluorescin as an indicator of reactive oxygen species formation and oxidative stress

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7 January 2021

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

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Oxidative stress: apoptosis in neuronal injury

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Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene

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7 January 2021

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Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

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Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia

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Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

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A meta-analysis of nonsense mutations causing human genetic disease.

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7 January 2021

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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

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Reactive oxygen species mediates homocysteine-induced mitochondrial biogenesis in human endothelial cells: modulation by antioxidants

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7 January 2021

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Identifiers

10.1002/HUMU.21107

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19760748%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19760748%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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