These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 14555645)

  • 1. A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
    Peters H; Nefedov M; Sarsero J; Pitt J; Fowler KJ; Gazeas S; Kahler SG; Ioannou PA
    J Biol Chem; 2003 Dec; 278(52):52909-13. PubMed ID: 14555645
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
    Forny P; Schumann A; Mustedanagic M; Mathis D; Wulf MA; Nägele N; Langhans CD; Zhakupova A; Heeren J; Scheja L; Fingerhut R; Peters HL; Hornemann T; Thony B; Kölker S; Burda P; Froese DS; Devuyst O; Baumgartner MR
    J Biol Chem; 2016 Sep; 291(39):20563-73. PubMed ID: 27519416
    [TBL] [Abstract][Full Text] [Related]  

  • 3. In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
    Lucienne M; Aguilar-Pimentel JA; Amarie OV; Becker L; Calzada-Wack J; da Silva-Buttkus P; Garrett L; Hölter SM; Mayer-Kuckuk P; Rathkolb B; Rozman J; Spielmann N; Treise I; Busch DH; Klopstock T; Schmidt-Weber C; Wolf E; Wurst W; Forny M; Mathis D; Fingerhut R; Froese DS; Gailus-Durner V; Fuchs H; de Angelis MH; Baumgartner MR
    Biochim Biophys Acta Mol Basis Dis; 2020 Mar; 1866(3):165622. PubMed ID: 31770620
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mouse models for methylmalonic aciduria.
    Peters HL; Pitt JJ; Wood LR; Hamilton NJ; Sarsero JP; Buck NE
    PLoS One; 2012; 7(7):e40609. PubMed ID: 22792386
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
    Chandler RJ; Tsai MS; Dorko K; Sloan J; Korson M; Freeman R; Strom S; Venditti CP
    BMC Med Genet; 2007 Apr; 8():24. PubMed ID: 17470278
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
    Hörster F; Baumgartner MR; Viardot C; Suormala T; Burgard P; Fowler B; Hoffmann GF; Garbade SF; Kölker S; Baumgartner ER
    Pediatr Res; 2007 Aug; 62(2):225-30. PubMed ID: 17597648
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
    Buck NE; Dashnow H; Pitt JJ; Wood LR; Peters HL
    PLoS One; 2012; 7(9):e44974. PubMed ID: 23024777
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
    Wilkemeyer MF; Crane AM; Ledley FD
    J Clin Invest; 1991 Mar; 87(3):915-8. PubMed ID: 1671869
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.
    Wong ES; McIntyre C; Peters HL; Ranieri E; Anson DS; Fletcher JM
    Hum Gene Ther; 2014 Jun; 25(6):529-38. PubMed ID: 24568291
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
    Chandler RJ; Venditti CP
    Hum Gene Ther; 2008 Jan; 19(1):53-60. PubMed ID: 18052792
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
    Thomä NH; Leadlay PF
    Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917
    [TBL] [Abstract][Full Text] [Related]  

  • 12. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A; Mucha B; Baumgartner ER; Vollmer M; Hildebrandt F
    Hum Mutat; 2000 Aug; 16(2):179. PubMed ID: 10923046
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
    Wongkittichote P; Cunningham G; Summar ML; Pumbo E; Forny P; Baumgartner MR; Chapman KA
    Mol Genet Metab; 2019 Dec; 128(4):444-451. PubMed ID: 31648943
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR
    Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
    Chandler RJ; Sloan J; Fu H; Tsai M; Stabler S; Allen R; Kaestner KH; Kazazian HH; Venditti CP
    BMC Med Genet; 2007 Oct; 8():64. PubMed ID: 17937813
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.
    Erlich-Hadad T; Hadad R; Feldman A; Greif H; Lictenstein M; Lorberboum-Galski H
    J Cell Mol Med; 2018 Mar; 22(3):1601-1613. PubMed ID: 29265583
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
    Chu J; Pupavac M; Watkins D; Tian X; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Wong LJ; Rosenblatt DS
    Mol Genet Metab; 2016 Aug; 118(4):264-71. PubMed ID: 27233228
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
    Forny P; Schnellmann AS; Buerer C; Lutz S; Fowler B; Froese DS; Baumgartner MR
    Hum Mutat; 2016 Aug; 37(8):745-54. PubMed ID: 27167370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S; Cairns JR; Sawangareetrakul P; Liammongkolkul S; Champattanachai V; Srisomsap C; Kamolsilp M; Wasant P; Svasti J
    Biochem Genet; 2007 Jun; 45(5-6):421-30. PubMed ID: 17410422
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Buck NE; Wood LR; Hamilton NJ; Bennett MJ; Peters HL
    Biochem Biophys Res Commun; 2012 Nov; 427(4):753-7. PubMed ID: 23041189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.