BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 36153662)

  • 1. Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
    Pavlova EV; Lev D; Michelson M; Yosovich K; Michaeli HG; Bright NA; Manna PT; Dickson VK; Tylee KL; Church HJ; Luzio JP; Cox TM
    Hum Mutat; 2022 Dec; 43(12):2265-2278. PubMed ID: 36153662
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The lysosomal disease caused by mutant VPS33A.
    Pavlova EV; Shatunov A; Wartosch L; Moskvina AI; Nikolaeva LE; Bright NA; Tylee KL; Church HJ; Ballabio A; Luzio JP; Cox TM
    Hum Mol Genet; 2019 Aug; 28(15):2514-2530. PubMed ID: 31070736
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
    Yıldız Y; Koşukcu C; Aygün D; Akçaboy M; Öztek Çelebi FZ; Taşcı Yıldız Y; Şahin G; Aytekin C; Yüksel D; Lay İ; Özgül RK; Dursun A
    Clin Genet; 2021 Sep; 100(3):308-317. PubMed ID: 34013567
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A(D251E) mutation.
    Zhen Y; Li W
    Autophagy; 2015; 11(9):1608-22. PubMed ID: 26259518
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.
    Wartosch L; Günesdogan U; Graham SC; Luzio JP
    Traffic; 2015 Jul; 16(7):727-42. PubMed ID: 25783203
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
    Kondo H; Maksimova N; Otomo T; Kato H; Imai A; Asano Y; Kobayashi K; Nojima S; Nakaya A; Hamada Y; Irahara K; Gurinova E; Sukhomyasova A; Nogovicina A; Savvina M; Yoshimori T; Ozono K; Sakai N
    Hum Mol Genet; 2017 Jan; 26(1):173-183. PubMed ID: 28013294
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel
    Lipiński P; Szczałuba K; Buda P; Zakharova EY; Baydakova G; Ługowska A; Różdzyńska-Świątkowska A; Cyske Z; Węgrzyn G; Pollak A; Płoski R; Tylki-Szymańska A
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232726
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
    Sofou K; Meier K; Sanderson LE; Kaminski D; Montoliu-Gaya L; Samuelsson E; Blomqvist M; Agholme L; Gärtner J; Mühlhausen C; Darin N; Barakat TS; Schlotawa L; van Ham T; Asin Cayuela J; Sterky FH
    EMBO Mol Med; 2021 May; 13(5):e13376. PubMed ID: 33938619
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Vps33B is required for delivery of endocytosed cargo to lysosomes.
    Galmes R; ten Brink C; Oorschot V; Veenendaal T; Jonker C; van der Sluijs P; Klumperman J
    Traffic; 2015 Dec; 16(12):1288-305. PubMed ID: 26403612
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Distinct roles of the two VPS33 proteins in the endolysosomal system in Caenorhabditis elegans.
    Gengyo-Ando K; Kage-Nakadai E; Yoshina S; Otori M; Kagawa-Nagamura Y; Nakai J; Mitani S
    Traffic; 2016 Nov; 17(11):1197-1213. PubMed ID: 27558849
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.
    van der Kant R; Jonker CT; Wijdeven RH; Bakker J; Janssen L; Klumperman J; Neefjes J
    J Biol Chem; 2015 Dec; 290(51):30280-90. PubMed ID: 26463206
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes.
    Guo X; Tu L; Gumper I; Plesken H; Novak EK; Chintala S; Swank RT; Pastores G; Torres P; Izumi T; Sun TT; Sabatini DD; Kreibich G
    Traffic; 2009 Sep; 10(9):1350-61. PubMed ID: 19566896
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B.
    Hunter MR; Hesketh GG; Benedyk TH; Gingras AC; Graham SC
    J Mol Biol; 2018 Jul; 430(14):2153-2163. PubMed ID: 29778605
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
    Dursun A; Yalnizoglu D; Gerdan OF; Yucel-Yilmaz D; Sagiroglu MS; Yuksel B; Gucer S; Sivri S; Ozgul RK
    Clin Dysmorphol; 2017 Jan; 26(1):1-12. PubMed ID: 27547915
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mucopolysaccharidosis-Plus Syndrome.
    Vasilev F; Sukhomyasova A; Otomo T
    Int J Mol Sci; 2020 Jan; 21(2):. PubMed ID: 31936524
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
    Graham SC; Wartosch L; Gray SR; Scourfield EJ; Deane JE; Luzio JP; Owen DJ
    Proc Natl Acad Sci U S A; 2013 Aug; 110(33):13345-50. PubMed ID: 23901104
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Distinct sets of tethering complexes, SNARE complexes, and Rab GTPases mediate membrane fusion at the vacuole in Arabidopsis.
    Takemoto K; Ebine K; Askani JC; Krüger F; Gonzalez ZA; Ito E; Goh T; Schumacher K; Nakano A; Ueda T
    Proc Natl Acad Sci U S A; 2018 Mar; 115(10):E2457-E2466. PubMed ID: 29463724
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The G2019S variant of leucine-rich repeat kinase 2 (LRRK2) alters endolysosomal trafficking by impairing the function of the GTPase RAB8A.
    Rivero-Ríos P; Romo-Lozano M; Madero-Pérez J; Thomas AP; Biosa A; Greggio E; Hilfiker S
    J Biol Chem; 2019 Mar; 294(13):4738-4758. PubMed ID: 30709905
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interaction of the HOPS complex with Syntaxin 17 mediates autophagosome clearance in Drosophila.
    Takáts S; Pircs K; Nagy P; Varga Á; Kárpáti M; Hegedűs K; Kramer H; Kovács AL; Sass M; Juhász G
    Mol Biol Cell; 2014 Apr; 25(8):1338-54. PubMed ID: 24554766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
    Bradford TM; Litjens T; Parkinson EJ; Hopwood JJ; Brooks DA
    Biochemistry; 2002 Apr; 41(15):4962-71. PubMed ID: 11939792
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.