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Journal Abstract Search

173 related items for PubMed ID: 34341521

  • 21. 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; 152A(1):124-32. PubMed ID: 20034096
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
    Doğan M, Eröz R, Terali K, Gezdirici A, Bolu S.
    Mol Biol Rep; 2021 Feb; 48(2):1465-1474. PubMed ID: 33507475
    [Abstract] [Full Text] [Related]

  • 24. 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(6):978-84. PubMed ID: 19370764
    [Abstract] [Full Text] [Related]

  • 25. Molecular analysis of the GlcNac-1-phosphotransferase.
    Braulke T, Pohl S, Storch S.
    J Inherit Metab Dis; 2008 Apr; 31(2):253-7. PubMed ID: 18425436
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

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

  • 28.
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  • 29. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
    Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D.
    Eur J Hum Genet; 2016 Apr; 24(4):529-34. PubMed ID: 26130485
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
    Khan MA, Zubaida B, Karim N, Cheema HA, Naeem M.
    J Pediatr Endocrinol Metab; 2020 May 26; 33(5):647-651. PubMed ID: 32238606
    [Abstract] [Full Text] [Related]

  • 32. In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
    Sperb-Ludwig F, Ludwig NF, Rizowy GM, Velho RV, Schwartz IVD.
    Genet Mol Biol; 2023 May 26; 46(3 Suppl 1):e20230117. PubMed ID: 38047750
    [Abstract] [Full Text] [Related]

  • 33. UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
    Tiede S, Hundt JE, Paus R.
    J Invest Dermatol; 2021 Dec 26; 141(12):2957-2965.e5. PubMed ID: 34116066
    [Abstract] [Full Text] [Related]

  • 34. 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 12; 19(1):162. PubMed ID: 30208878
    [Abstract] [Full Text] [Related]

  • 35. 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 12; 61(6):555-60. PubMed ID: 26935170
    [Abstract] [Full Text] [Related]

  • 36. A role for inherited metabolic deficits in persistent developmental stuttering.
    Kang C, Drayna D.
    Mol Genet Metab; 2012 Nov 12; 107(3):276-80. PubMed ID: 22884963
    [Abstract] [Full Text] [Related]

  • 37. 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 12; 17(8):1612-1626. PubMed ID: 29773673
    [Abstract] [Full Text] [Related]

  • 38. [Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
    Liu N, Feng Y, Jiang M, Kong XD.
    Zhonghua Er Ke Za Zhi; 2019 Dec 02; 57(12):950-954. PubMed ID: 31795562
    [Abstract] [Full Text] [Related]

  • 39. Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
    Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G.
    Gene; 2018 Feb 05; 642():398-407. PubMed ID: 29170090
    [Abstract] [Full Text] [Related]

  • 40. Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
    Matos L, Vilela R, Rocha M, Santos JI, Coutinho MF, Gaspar P, Prata MJ, Alves S.
    Hum Gene Ther; 2020 Jul 05; 31(13-14):775-783. PubMed ID: 32283951
    [Abstract] [Full Text] [Related]

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