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.
2. Functional screening of pharmacological chaperones via restoration of enzyme activity upon denaturation. Shanmuganathan M; Britz-McKibbin P Biochemistry; 2012 Oct; 51(39):7651-3. PubMed ID: 22970758 [TBL] [Abstract][Full Text] [Related]
3. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Sánchez-Ollé G; Duque J; Egido-Gabás M; Casas J; Lluch M; Chabás A; Grinberg D; Vilageliu L Blood Cells Mol Dis; 2009; 42(2):159-66. PubMed ID: 19167250 [TBL] [Abstract][Full Text] [Related]
4. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Sawkar AR; Adamski-Werner SL; Cheng WC; Wong CH; Beutler E; Zimmer KP; Kelly JW Chem Biol; 2005 Nov; 12(11):1235-44. PubMed ID: 16298303 [TBL] [Abstract][Full Text] [Related]
6. Synthesis of N-substituted ε-hexonolactams as pharmacological chaperones for the treatment of N370S mutant Gaucher disease. Wang GN; Twigg G; Butters TD; Zhang S; Zhang L; Zhang LH; Ye XS Org Biomol Chem; 2012 Apr; 10(15):2923-7. PubMed ID: 22286559 [TBL] [Abstract][Full Text] [Related]
7. Pharmacologic chaperoning as a strategy to treat Gaucher disease. Yu Z; Sawkar AR; Kelly JW FEBS J; 2007 Oct; 274(19):4944-50. PubMed ID: 17894779 [TBL] [Abstract][Full Text] [Related]
8. Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease. Egido-Gabás M; Canals D; Casas J; Llebaria A; Delgado A ChemMedChem; 2007 Jul; 2(7):992-4. PubMed ID: 17479993 [No Abstract] [Full Text] [Related]
9. Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease. Wang GN; Reinkensmeier G; Zhang SW; Zhou J; Zhang LR; Zhang LH; Butters TD; Ye XS J Med Chem; 2009 May; 52(10):3146-9. PubMed ID: 19397268 [TBL] [Abstract][Full Text] [Related]
10. Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease. Compain P; Martin OR; Boucheron C; Godin G; Yu L; Ikeda K; Asano N Chembiochem; 2006 Sep; 7(9):1356-9. PubMed ID: 16871601 [No Abstract] [Full Text] [Related]
11. Chemical chaperones--a new concept in drug research. Kolter T; Wendeler M Chembiochem; 2003 Apr; 4(4):260-4. PubMed ID: 12672104 [No Abstract] [Full Text] [Related]
12. Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease. Laigre E; Hazelard D; Casas J; Serra-Vinardell J; Michelakakis H; Mavridou I; Aerts JM; Delgado A; Compain P Carbohydr Res; 2016 Jun; 429():98-104. PubMed ID: 27063390 [TBL] [Abstract][Full Text] [Related]
13. Gaucher disease: report of de novo GBA mutation in a Spanish family. Alfonso P; Pocovi M; Giraldo P Blood Cells Mol Dis; 2008; 40(3):444-5. PubMed ID: 18313951 [No Abstract] [Full Text] [Related]
14. Getting into the fold. Brooks DA Nat Chem Biol; 2007 Feb; 3(2):84-5. PubMed ID: 17235342 [No Abstract] [Full Text] [Related]
15. [Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease]. Dandana A; Ferchichi S; Ben Khelifa S; Jaidane Z; Monastiri K; Chkioua L; Maire I; Froissart R; Bonnet V; Laradi S; Miled A Pathol Biol (Paris); 2008 Mar; 56(2):88-93. PubMed ID: 18178337 [TBL] [Abstract][Full Text] [Related]
16. Gaucher disease in Tunisia: High frequency of the most common mutations. Cherif W; Ben Turkia H; Ben Rhouma F; Riahi I; Chemli J; Kefi R; Messai H; Amaral O; Miranda MC; Caillaud C; Tebib N; Ben Dridi MF; Abdelhak S Blood Cells Mol Dis; 2009; 43(2):161-2. PubMed ID: 19553144 [No Abstract] [Full Text] [Related]
17. Identification of Gaucher disease mutations found in Saudi Arabia. Kaya N; Al-Zahrani F; Al-Odaib A; Rahbeeni Z; Al-Hassnan Z; Al-Sharif F; Ozand P; Al-Sayed M Blood Cells Mol Dis; 2008; 41(2):200-1. PubMed ID: 18586535 [No Abstract] [Full Text] [Related]
18. New directions in the treatment of Gaucher disease. Futerman AH; Sussman JL; Horowitz M; Silman I; Zimran A Trends Pharmacol Sci; 2004 Mar; 25(3):147-51. PubMed ID: 15019270 [No Abstract] [Full Text] [Related]
19. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine]. Horovenko NH; Ol'khovych NV; Nedoboĭ AM; Pichkur NO Tsitol Genet; 2007; 41(4):41-7. PubMed ID: 18030725 [TBL] [Abstract][Full Text] [Related]
20. Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray. Ezgu F; Hasanoglu A; Okur I; Biberoglu G; Tumer L; Eminoglu T; Dogan H Blood Cells Mol Dis; 2008; 40(2):246-7. PubMed ID: 18035560 [No Abstract] [Full Text] [Related] [Next] [New Search]