A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
about
Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistryAntisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryRole of vitamin B12 on methylmalonyl-CoA mutase activityTargeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaAdenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytesMetabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscleCorrection of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.Mouse models for methylmalonic aciduriaDevelopment of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.Genetic and genomic systems to study methylmalonic acidemia.A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.Hepatic Effects of Pharmacological Doses of Hydroxy-Cobalamin[c-lactam] in MiceLmbrd1 expression is essential for the initiation of gastrulationMitochondrial dysfunction in mut methylmalonic acidemia.Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolismPropionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Somatic genome editing with CRISPR/Cas9 generates and corrects a metabolic disease.Cobalamin deficiency results in an abnormal increase in L-methylmalonyl-co-enzyme-A mutase expression in rat liver and COS-7 cells.Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet
P2860
Q24653004-859CDB95-691E-40CE-A285-50D8678378DFQ26830637-E1EE8EF9-227C-4334-B4C0-92FC38D7D094Q28267976-85A7D81E-1E9B-40A6-AC88-08EE002BDE39Q28295609-5EEEB84F-CB01-4C39-8E18-BA6DD38ED1E3Q33283258-9F0414F4-2F7B-44C3-A3A0-819A8D0AA9C4Q33302709-6D5BCA39-C582-4F1C-9F4B-4282546F1DEEQ33782814-B52EC9B2-4688-4446-A743-E175EB8AE0B8Q34336606-FC975C6F-6450-4D4A-BF1E-5FD805AC6928Q34425128-430410E8-07A0-4B8E-A872-3F678A56F91AQ34453620-98E71955-9665-49F8-9038-ACD55C8AE941Q34464418-31646D21-8B98-4C90-B4EB-2BDD14D8BD9EQ36263964-E0E32653-FE2B-45A3-9E8D-9F56B043EC9AQ37117150-CD36A03F-DA51-44B8-A6DF-A8A1EF3E17FBQ37139811-09CAC8D9-CA98-48B3-84AE-C1E776DDBC67Q37194888-BC70B3B1-340B-4DA6-9892-B07CC072D0D3Q37235374-605C3631-7FDE-4F3F-B6E9-F11EB3702C63Q37278842-C29ED7AF-607A-497C-A117-02EEDA940C2EQ37385660-2F50CA54-9BAB-4F35-AD15-98EAEE560AC7Q37566132-069132F6-1897-413F-A423-1CA42983E85AQ37832681-134528E8-64E1-4CB4-883D-9FAFB6EA48D6Q38831360-156A4F42-CA37-4BAD-8D88-DB5500A41B54Q41161735-52F7528C-0128-441E-A112-3C5D62420855Q41964540-94D94D89-00F1-411A-B370-846032D1298DQ46423975-378DA02A-48F6-40A9-88BC-C88BD6DAC337Q57463051-B4E9AD0F-CFFD-498C-94E9-4E451B1C03FD
P2860
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
description
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
artículu científicu espublizáu en 2003
@ast
im Dezember 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/12/26)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/12/26)
@nl
наукова стаття, опублікована в грудні 2003
@uk
name
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@ast
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@en
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@nl
type
label
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@ast
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@en
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@nl
prefLabel
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@ast
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@en
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@nl
P2093
P2860
P3181
P356
P1476
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
@en
P2093
Heidi Peters
James Pitt
Joseph Sarsero
Kerry J. Fowler
Mikhail Nefedov
Panayiotis A. Ioannou
Sophie Gazeas
Stephen G. Kahler
P2860
P304
52909–52913
P3181
P356
10.1074/JBC.M310533200
P407
P577
2003-12-26T00:00:00Z