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 *

166 related articles for article (PubMed ID: 27239697)

  • 1. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development.
    Koehne T; Markmann S; Schweizer M; Muschol N; Friedrich RE; Hagel C; Glatzel M; Kahl-Nieke B; Amling M; Schinke T; Braulke T
    Biochim Biophys Acta; 2016 Sep; 1862(9):1570-80. PubMed ID: 27239697
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.
    Schweizer M; Markmann S; Braulke T; Kollmann K
    Ultrastruct Pathol; 2013 Oct; 37(5):366-72. PubMed ID: 24047352
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
    Kollmann K; Pestka JM; Kühn SC; Schöne E; Schweizer M; Karkmann K; Otomo T; Catala-Lehnen P; Failla AV; Marshall RP; Krause M; Santer R; Amling M; Braulke T; Schinke T
    EMBO Mol Med; 2013 Dec; 5(12):1871-86. PubMed ID: 24127423
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
    Paton L; Bitoun E; Kenyon J; Priestman DA; Oliver PL; Edwards B; Platt FM; Davies KE
    J Biol Chem; 2014 Sep; 289(39):26709-26721. PubMed ID: 25107912
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
    Sachs W; Sachs M; Krüger E; Zielinski S; Kretz O; Huber TB; Baranowsky A; Westermann LM; Voltolini Velho R; Ludwig NF; Yorgan TA; Di Lorenzo G; Kollmann K; Braulke T; Schwartz IV; Schinke T; Danyukova T; Pohl S; Meyer-Schwesinger C
    J Am Soc Nephrol; 2020 Aug; 31(8):1796-1814. PubMed ID: 32641396
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comparative pathology of murine mucolipidosis types II and IIIC.
    Vogel P; Payne BJ; Read R; Lee WS; Gelfman CM; Kornfeld S
    Vet Pathol; 2009 Mar; 46(2):313-24. PubMed ID: 19261645
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
    Kollmann K; Damme M; Markmann S; Morelle W; Schweizer M; Hermans-Borgmeyer I; Röchert AK; Pohl S; Lübke T; Michalski JC; Käkelä R; Walkley SU; Braulke T
    Brain; 2012 Sep; 135(Pt 9):2661-75. PubMed ID: 22961545
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M; Brem MS; Canfield WM
    Am J Hum Genet; 2006 Mar; 78(3):451-63. PubMed ID: 16465621
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
    Di Lorenzo G; Velho RV; Winter D; Thelen M; Ahmadi S; Schweizer M; De Pace R; Cornils K; Yorgan TA; Grüb S; Hermans-Borgmeyer I; Schinke T; Müller-Loennies S; Braulke T; Pohl S
    Mol Cell Proteomics; 2018 Aug; 17(8):1612-1626. PubMed ID: 29773673
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
    Velho RV; Harms FL; Danyukova T; Ludwig NF; Friez MJ; Cathey SS; Filocamo M; Tappino B; Güneş N; Tüysüz B; Tylee KL; Brammeier KL; Heptinstall L; Oussoren E; van der Ploeg AT; Petersen C; Alves S; Saavedra GD; Schwartz IV; Muschol N; Kutsche K; Pohl S
    Hum Mutat; 2019 Jul; 40(7):842-864. PubMed ID: 30882951
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.
    Flanagan-Steet H; Sias C; Steet R
    Am J Pathol; 2009 Nov; 175(5):2063-75. PubMed ID: 19834066
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.
    Idol RA; Wozniak DF; Fujiwara H; Yuede CM; Ory DS; Kornfeld S; Vogel P
    PLoS One; 2014; 9(10):e109768. PubMed ID: 25314316
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
    Westermann LM; Fleischhauer L; Vogel J; Jenei-Lanzl Z; Ludwig NF; Schau L; Morellini F; Baranowsky A; Yorgan TA; Di Lorenzo G; Schweizer M; de Souza Pinheiro B; Guarany NR; Sperb-Ludwig F; Visioli F; Oliveira Silva T; Soul J; Hendrickx G; Wiegert JS; Schwartz IVD; Clausen-Schaumann H; Zaucke F; Schinke T; Pohl S; Danyukova T
    Dis Model Mech; 2020 Nov; 13(11):. PubMed ID: 33023972
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dilated cardiomyopathy in mucolipidosis type 2.
    Carboni E; Sestito S; Lucente M; Morrone A; Zampini L; Chimenz R; Ceravolo MD; De Sarro R; Ceravolo G; Calabrò MP; Parisi F; Moricca MT; Pensabene L; Musolino D; Concolino D
    J Biol Regul Homeost Agents; 2020; 34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PubMed ID: 33000604
    [TBL] [Abstract][Full Text] [Related]  

  • 15. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
    Ko AR; Jin DK; Cho SY; Park SW; Przybylska M; Yew NS; Cheng SH; Kim JS; Kwak MJ; Kim SJ; Sohn YB
    Mol Genet Metab; 2016 Apr; 117(4):447-55. PubMed ID: 26857995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
    Ludwig NF; Velho RV; Sperb-Ludwig F; Acosta AX; Ribeiro EM; Kim CA; Gandelman Horovitz DD; Boy R; Rodovalho-Doriqui MJ; Lourenço CM; Santos ES; Braulke T; Pohl S; Schwartz IVD
    Int J Biochem Cell Biol; 2017 Nov; 92():90-94. PubMed ID: 28918368
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC; Tsung LL; Liu KT; Poon WT
    BMC Med Genet; 2018 Sep; 19(1):162. PubMed ID: 30208878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
    Pohl S; Tiede S; Castrichini M; Cantz M; Gieselmann V; Braulke T
    Biochim Biophys Acta; 2009 Mar; 1792(3):221-5. PubMed ID: 19708128
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
    Pasumarthi D; Gupta N; Sheth J; Jain SJMN; Rungsung I; Kabra M; Ranganath P; Aggarwal S; Phadke SR; Girisha KM; Shukla A; Datar C; Verma IC; Puri RD; Bhavsar R; Mistry M; Sankar VH; Gowrishankar K; Agrawal D; Nair M; Danda S; Soni JP; Dalal A
    J Hum Genet; 2020 Nov; 65(11):971-984. PubMed ID: 32651481
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mannose phosphorylation in health and disease.
    Kollmann K; Pohl S; Marschner K; Encarnação M; Sakwa I; Tiede S; Poorthuis BJ; Lübke T; Müller-Loennies S; Storch S; Braulke T
    Eur J Cell Biol; 2010 Jan; 89(1):117-23. PubMed ID: 19945768
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.