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 *

317 related articles for article (PubMed ID: 22623374)

  • 1. Gaucher disease paradigm: from ERAD to comorbidity.
    Bendikov-Bar I; Horowitz M
    Hum Mutat; 2012 Oct; 33(10):1398-407. PubMed ID: 22623374
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
    Ron I; Horowitz M
    Hum Mol Genet; 2005 Aug; 14(16):2387-98. PubMed ID: 16000318
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
    Ron I; Rapaport D; Horowitz M
    Hum Mol Genet; 2010 Oct; 19(19):3771-81. PubMed ID: 20643691
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.
    Ron I; Horowitz M
    Mol Genet Metab; 2008 Apr; 93(4):426-36. PubMed ID: 18160322
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Unfolded protein response in Gaucher disease: from human to Drosophila.
    Maor G; Rencus-Lazar S; Filocamo M; Steller H; Segal D; Horowitz M
    Orphanet J Rare Dis; 2013 Sep; 8():140. PubMed ID: 24020503
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.
    Maor G; Filocamo M; Horowitz M
    Hum Mol Genet; 2013 Apr; 22(7):1316-27. PubMed ID: 23255161
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.
    Bendikov-Bar I; Ron I; Filocamo M; Horowitz M
    Blood Cells Mol Dis; 2011 Jan; 46(1):4-10. PubMed ID: 21106416
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
    Yang NY; Lee YN; Lee HJ; Kim YS; Lee SJ
    Biol Chem; 2013 Jul; 394(7):807-18. PubMed ID: 23435096
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
    Sawkar AR; Schmitz M; Zimmer KP; Reczek D; Edmunds T; Balch WE; Kelly JW
    ACS Chem Biol; 2006 May; 1(4):235-51. PubMed ID: 17163678
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The relationship between glucocerebrosidase mutations and Parkinson disease.
    Migdalska-Richards A; Schapira AH
    J Neurochem; 2016 Oct; 139 Suppl 1(Suppl Suppl 1):77-90. PubMed ID: 26860875
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The contribution of mutant GBA to the development of Parkinson disease in Drosophila.
    Maor G; Cabasso O; Krivoruk O; Rodriguez J; Steller H; Segal D; Horowitz M
    Hum Mol Genet; 2016 Jul; 25(13):2712-2727. PubMed ID: 27162249
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.
    Tan YL; Genereux JC; Pankow S; Aerts JM; Yates JR; Kelly JW
    Chem Biol; 2014 Aug; 21(8):967-76. PubMed ID: 25126989
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.
    Bendikov-Bar I; Maor G; Filocamo M; Horowitz M
    Blood Cells Mol Dis; 2013 Feb; 50(2):141-5. PubMed ID: 23158495
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
    Fog CK; Zago P; Malini E; Solanko LM; Peruzzo P; Bornaes C; Magnoni R; Mehmedbasic A; Petersen NHT; Bembi B; Aerts JFMG; Dardis A; Kirkegaard T
    EBioMedicine; 2018 Dec; 38():142-153. PubMed ID: 30497978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human β-glucocerebrosidase.
    Babajani G; Kermode AR
    Plant Signal Behav; 2014; 9(3):e28714. PubMed ID: 24713615
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations causing Gaucher disease.
    Horowitz M; Zimran A
    Hum Mutat; 1994; 3(1):1-11. PubMed ID: 8118460
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
    Zimmer KP; le Coutre P; Aerts HM; Harzer K; Fukuda M; O'Brien JS; Naim HY
    J Pathol; 1999 Aug; 188(4):407-14. PubMed ID: 10440752
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
    Pavan E; Peruzzo P; Cattarossi S; Bergamin N; Bordugo A; Sechi A; Scarpa M; Biasizzo J; Colucci F; Dardis A
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928321
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS; LaMarca ME; Scott CR; Sidransky E
    Hum Mutat; 2008 May; 29(5):567-83. PubMed ID: 18338393
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
    Karaca E; Kalkan S; Onay H; Aykut A; Coker M; Ozkinay F
    J Pediatr Endocrinol Metab; 2012; 25(9-10):957-62. PubMed ID: 23426826
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.