Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
about
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyThe C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningTwo novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsA Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseaseAdvances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.Glutathione metabolism in cobalamin deficiency type C (cblC).2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Evaluation of vitamin B12 effects on DNA damage induced by paclitaxel.Cobalamin-Associated Superoxide Scavenging in Neuronal Cells Is a Potential Mechanism for Vitamin B12-Deprivation Optic Neuropathy.Severe Hyperhomocysteinemia Decreases Respiratory Enzyme and Na(+)-K(+) ATPase Activities, and Leads to Mitochondrial Alterations in Rat Amygdala.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Coordination chemistry controls the thiol oxidase activity of the B12-trafficking protein CblC.Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.Vitamin B Deficiency Induces Imbalance in Melanocytes Homeostasis-A Cellular Basis of Hypocobalaminemia Pigmentary Manifestations
P2860
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P2860
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@ast
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@en
type
label
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@ast
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@en
prefLabel
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@ast
Genetic and cellular studies o ...... with homocystinuria (MMACHC).
@en
P2093
P2860
P356
P1433
P1476
Genetic and cellular studies o ...... ) with homocystinuria (MMACHC)
@en
P2093
Ana Jorge-Finnigan
Antonia Ribes
Begoña Merinero
Belén Pérez
Celia Pérez-Cerdá
Eva Richard
Fátima Leal
Judit Garcia-Villoria
Laura Gort
Lourdes R Desviat
P2860
P304
P356
10.1002/HUMU.21107
P577
2009-11-01T00:00:00Z