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173 related items for PubMed ID: 32641396

  • 1. 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]

  • 2. 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 18; 13(11):. PubMed ID: 33023972
    [Abstract] [Full Text] [Related]

  • 3. 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 18; 1862(9):1570-80. PubMed ID: 27239697
    [Abstract] [Full Text] [Related]

  • 4. 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 18; 40(7):842-864. PubMed ID: 30882951
    [Abstract] [Full Text] [Related]

  • 5. 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 18; 41(7):1321-1328. PubMed ID: 32220096
    [Abstract] [Full Text] [Related]

  • 6. Mucolipidosis type II and type III: a systematic review of 843 published cases.
    Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E.
    Genet Med; 2021 Nov 18; 23(11):2047-2056. PubMed ID: 34172897
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 46(2):313-24. PubMed ID: 19261645
    [Abstract] [Full Text] [Related]

  • 8. 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 18; 17(8):1612-1626. PubMed ID: 29773673
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 289(39):26709-26721. PubMed ID: 25107912
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 89(1):117-23. PubMed ID: 19945768
    [Abstract] [Full Text] [Related]

  • 11. The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
    Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE.
    Science; 2022 Oct 07; 378(6615):eabn5648. PubMed ID: 36074821
    [Abstract] [Full Text] [Related]

  • 12. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
    Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S.
    Genet Med; 2021 Dec 07; 23(12):2369-2377. PubMed ID: 34341521
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 37(5):366-72. PubMed ID: 24047352
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 78(3):451-63. PubMed ID: 16465621
    [Abstract] [Full Text] [Related]

  • 15. 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 Mar 07; 34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PubMed ID: 33000604
    [Abstract] [Full Text] [Related]

  • 16. LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway.
    Qiao W, Richards CM, Jabs S.
    Autophagy; 2023 Jul 07; 19(7):2143-2145. PubMed ID: 36633450
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 5(12):1871-86. PubMed ID: 24127423
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 30; 92():90-94. PubMed ID: 28918368
    [Abstract] [Full Text] [Related]

  • 20. 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 Nov 30; 9(10):e109768. PubMed ID: 25314316
    [Abstract] [Full Text] [Related]

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