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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

285 related items for PubMed ID: 16835905

  • 1. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
    Tiede S, Cantz M, Spranger J, Braulke T.
    Hum Mutat; 2006 Aug; 27(8):830-1. PubMed ID: 16835905
    [Abstract] [Full Text] [Related]

  • 2. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
    Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T.
    Am J Med Genet A; 2005 Sep 01; 137A(3):235-40. PubMed ID: 16094673
    [Abstract] [Full Text] [Related]

  • 3. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
    Liu S, Zhang W, Shi H, Meng Y, Qiu Z.
    Gene; 2014 Feb 10; 535(2):294-8. PubMed ID: 24316125
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
    Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.
    Clin Genet; 2009 Jul 10; 76(1):76-84. PubMed ID: 19659762
    [Abstract] [Full Text] [Related]

  • 5. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
    Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.
    Acta Pharmacol Sin; 2019 Feb 10; 40(2):279-287. PubMed ID: 29872134
    [Abstract] [Full Text] [Related]

  • 6. 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 10; 40(7):842-864. PubMed ID: 30882951
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 1792(3):221-5. PubMed ID: 19708128
    [Abstract] [Full Text] [Related]

  • 8. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
    van Meel E, Kornfeld S.
    Hum Mutat; 2016 Jul 10; 37(7):623-6. PubMed ID: 27038293
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 78(3):451-63. PubMed ID: 16465621
    [Abstract] [Full Text] [Related]

  • 10. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
    Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T.
    Am J Med Genet A; 2010 Jan 10; 152A(1):124-32. PubMed ID: 20034096
    [Abstract] [Full Text] [Related]

  • 11. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
    Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK.
    Hum Mutat; 2005 Oct 10; 26(4):308-14. PubMed ID: 16116615
    [Abstract] [Full Text] [Related]

  • 12. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
    Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A.
    Mol Genet Metab; 2006 Aug 10; 88(4):359-63. PubMed ID: 16630736
    [Abstract] [Full Text] [Related]

  • 13. Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
    Qian Y, van Meel E, Flanagan-Steet H, Yox A, Steet R, Kornfeld S.
    J Biol Chem; 2015 Jan 30; 290(5):3045-56. PubMed ID: 25505245
    [Abstract] [Full Text] [Related]

  • 14. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
    Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T.
    Nat Med; 2005 Oct 30; 11(10):1109-12. PubMed ID: 16200072
    [Abstract] [Full Text] [Related]

  • 15. Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
    Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV.
    J Hum Genet; 2016 Jun 30; 61(6):555-60. PubMed ID: 26935170
    [Abstract] [Full Text] [Related]

  • 16. Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.
    Flanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R.
    Biochim Biophys Acta; 2016 Sep 30; 1860(9):1845-53. PubMed ID: 27241848
    [Abstract] [Full Text] [Related]

  • 17. Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
    Lee WS, Jennings BC, Doray B, Kornfeld S.
    Hum Mutat; 2020 Jul 30; 41(7):1321-1328. PubMed ID: 32220096
    [Abstract] [Full Text] [Related]

  • 18. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
    Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.
    Hum Mutat; 2009 Jun 30; 30(6):978-84. PubMed ID: 19370764
    [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 30; 65(11):971-984. PubMed ID: 32651481
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
    Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T.
    Hum Mutat; 2004 Dec 30; 24(6):535. PubMed ID: 15532026
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 15.