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 *

351 related articles for article (PubMed ID: 32957425)

  • 1. Mucolipidoses Overview: Past, Present, and Future.
    Khan SA; Tomatsu SC
    Int J Mol Sci; 2020 Sep; 21(18):. PubMed ID: 32957425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase.
    Gorelik A; Illes K; Bui KH; Nagar B
    Proc Natl Acad Sci U S A; 2022 Aug; 119(33):e2203518119. PubMed ID: 35939698
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.
    Coutinho MF; Prata MJ; Alves S
    Mol Genet Metab; 2012 Apr; 105(4):542-50. PubMed ID: 22266136
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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; 290(5):3045-56. PubMed ID: 25505245
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
    Boonen M; Vogel P; Platt KA; Dahms N; Kornfeld S
    Mol Biol Cell; 2009 Oct; 20(20):4381-9. PubMed ID: 19710420
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.
    Arunkumar N; Vu DC; Khan S; Kobayashi H; Ngoc Can TB; Oguni T; Watanabe J; Tanaka M; Yamaguchi S; Taketani T; Ago Y; Ohnishi H; Saikia S; Álvarez JV; Tomatsu S
    Diagnostics (Basel); 2021 Jul; 11(8):. PubMed ID: 34441282
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.
    Sun Q; Li J; Wang C; Huang X; Huang H; Du D; Liang Y; Han H
    Gene; 2005 Feb; 347(1):55-64. PubMed ID: 15716021
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.
    Markmann S; Krambeck S; Hughes CJ; Mirzaian M; Aerts JM; Saftig P; Schweizer M; Vissers JP; Braulke T; Damme M
    Mol Cell Proteomics; 2017 Mar; 16(3):438-450. PubMed ID: 28062798
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
    Müller-Loennies S; Galliciotti G; Kollmann K; Glatzel M; Braulke T
    Am J Pathol; 2010 Jul; 177(1):240-7. PubMed ID: 20472886
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
    van Meel E; Qian Y; Kornfeld SA
    Proc Natl Acad Sci U S A; 2014 Mar; 111(9):3532-7. PubMed ID: 24550498
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes.
    van Meel E; Lee WS; Liu L; Qian Y; Doray B; Kornfeld S
    J Biol Chem; 2016 Apr; 291(15):8295-307. PubMed ID: 26833567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
    Qian Y; Flanagan-Steet H; van Meel E; Steet R; Kornfeld SA
    Proc Natl Acad Sci U S A; 2013 Jun; 110(25):10246-51. PubMed ID: 23733939
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 40(2):279-287. PubMed ID: 29872134
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 378(6615):eabn5648. PubMed ID: 36074821
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 11(10):1109-12. PubMed ID: 16200072
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.