BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 19576565)

  • 1. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
    Lefeber DJ; Schönberger J; Morava E; Guillard M; Huyben KM; Verrijp K; Grafakou O; Evangeliou A; Preijers FW; Manta P; Yildiz J; Grünewald S; Spilioti M; van den Elzen C; Klein D; Hess D; Ashida H; Hofsteenge J; Maeda Y; van den Heuvel L; Lammens M; Lehle L; Wevers RA
    Am J Hum Genet; 2009 Jul; 85(1):76-86. PubMed ID: 19576565
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
    Yang AC; Ng BG; Moore SA; Rush J; Waechter CJ; Raymond KM; Willer T; Campbell KP; Freeze HH; Mehta L
    Mol Genet Metab; 2013 Nov; 110(3):345-351. PubMed ID: 23856421
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
    van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
    J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
    Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
    Svahn J; Laforêt P; Vial C; Streichenberger N; Romero N; Bouchet-Séraphin C; Bruneel A; Dupré T; Seta N; Menassa R; Michel-Calemard L; Stojkovic T
    Neuromuscul Disord; 2019 Jul; 29(7):497-502. PubMed ID: 31266720
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.
    Van den Bergh PYK; Sznajer Y; Van Parys V; van Tol W; Wevers RA; Lefeber DJ; Xu L; Lek M; MacArthur DG; Johnson K; Phillips L; Töpf A; Straub V
    Neuromuscul Disord; 2017 Nov; 27(11):1043-1046. PubMed ID: 28803818
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.
    Marchese M; Pappalardo A; Baldacci J; Verri T; Doccini S; Cassandrini D; Bruno C; Fiorillo C; Garcia-Gil M; Bertini E; Pitto L; Santorelli FM
    Biochem Biophys Res Commun; 2016 Aug; 477(1):137-143. PubMed ID: 27291147
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
    van Tol W; Ashikov A; Korsch E; Abu Bakar N; Willemsen MA; Thiel C; Lefeber DJ
    JIMD Rep; 2019 Nov; 50(1):31-39. PubMed ID: 31741824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3.
    Ashida H; Maeda Y; Kinoshita T
    J Biol Chem; 2006 Jan; 281(2):896-904. PubMed ID: 16280320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
    Nagy S; Lau T; Alavi S; Karimiani EG; Vallian J; Ng BG; Noroozi Asl S; Akhondian J; Bahreini A; Yaghini O; Uapinyoying P; Bonnemann C; Freeze HH; Dissanayake VHW; Sirisena ND; Schmidts M; Houlden H; Moreno-De-Luca A; Maroofian R
    Clin Genet; 2022 Dec; 102(6):530-536. PubMed ID: 35932216
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.
    Endo T
    Acta Myol; 2005 Oct; 24(2):64-9. PubMed ID: 16550917
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
    Maeda Y; Tanaka S; Hino J; Kangawa K; Kinoshita T
    EMBO J; 2000 Jun; 19(11):2475-82. PubMed ID: 10835346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
    Dancourt J; Vuillaumier-Barrot S; de Baulny HO; Sfaello I; Barnier A; le Bizec C; Dupre T; Durand G; Seta N; Moore SE
    Pediatr Res; 2006 Jun; 59(6):835-9. PubMed ID: 16641202
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
    Martin PT
    Nat Clin Pract Neurol; 2006 Apr; 2(4):222-30. PubMed ID: 16932553
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mammalian
    Larsen ISB; Narimatsu Y; Joshi HJ; Yang Z; Harrison OJ; Brasch J; Shapiro L; Honig B; Vakhrushev SY; Clausen H; Halim A
    J Biol Chem; 2017 Jul; 292(27):11586-11598. PubMed ID: 28512129
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Abnormal glycosylation of dystroglycan in human genetic disease.
    Hewitt JE
    Biochim Biophys Acta; 2009 Sep; 1792(9):853-61. PubMed ID: 19539754
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Matsumoto H; Hayashi YK; Kim DS; Ogawa M; Murakami T; Noguchi S; Nonaka I; Nakazawa T; Matsuo T; Futagami S; Campbell KP; Nishino I
    Neuromuscul Disord; 2005 May; 15(5):342-8. PubMed ID: 15833426
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
    Clement E; Mercuri E; Godfrey C; Smith J; Robb S; Kinali M; Straub V; Bushby K; Manzur A; Talim B; Cowan F; Quinlivan R; Klein A; Longman C; McWilliam R; Topaloglu H; Mein R; Abbs S; North K; Barkovich AJ; Rutherford M; Muntoni F
    Ann Neurol; 2008 Nov; 64(5):573-82. PubMed ID: 19067344
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 17.