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.
130 related articles for article (PubMed ID: 22027144)
1. Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation. Shimada Y; Nishida H; Nishiyama Y; Kobayashi H; Higuchi T; Eto Y; Ida H; Ohashi T Biochem Biophys Res Commun; 2011 Nov; 415(2):274-8. PubMed ID: 22027144 [TBL] [Abstract][Full Text] [Related]
2. Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. Shimada Y; Kobayashi H; Kawagoe S; Aoki K; Kaneshiro E; Shimizu H; Eto Y; Ida H; Ohashi T Mol Genet Metab; 2011 Dec; 104(4):566-73. PubMed ID: 21982629 [TBL] [Abstract][Full Text] [Related]
3. Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease. Shimada Y; Nishimura E; Hoshina H; Kobayashi H; Higuchi T; Eto Y; Ida H; Ohashi T JIMD Rep; 2015; 18():33-9. PubMed ID: 25256446 [TBL] [Abstract][Full Text] [Related]
4. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Flanagan JJ; Rossi B; Tang K; Wu X; Mascioli K; Donaudy F; Tuzzi MR; Fontana F; Cubellis MV; Porto C; Benjamin E; Lockhart DJ; Valenzano KJ; Andria G; Parenti G; Do HV Hum Mutat; 2009 Dec; 30(12):1683-92. PubMed ID: 19862843 [TBL] [Abstract][Full Text] [Related]
5. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease. Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108 [TBL] [Abstract][Full Text] [Related]
6. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Okumiya T; Kroos MA; Vliet LV; Takeuchi H; Van der Ploeg AT; Reuser AJ Mol Genet Metab; 2007 Jan; 90(1):49-57. PubMed ID: 17095274 [TBL] [Abstract][Full Text] [Related]
7. Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease. Nishiyama Y; Shimada Y; Yokoi T; Kobayashi H; Higuchi T; Eto Y; Ida H; Ohashi T Mol Genet Metab; 2012 Nov; 107(3):490-5. PubMed ID: 23041259 [TBL] [Abstract][Full Text] [Related]
8. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Parenti G; Zuppaldi A; Gabriela Pittis M; Rosaria Tuzzi M; Annunziata I; Meroni G; Porto C; Donaudy F; Rossi B; Rossi M; Filocamo M; Donati A; Bembi B; Ballabio A; Andria G Mol Ther; 2007 Mar; 15(3):508-14. PubMed ID: 17213836 [TBL] [Abstract][Full Text] [Related]
9. The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease. Khanna R; Powe AC; Lun Y; Soska R; Feng J; Dhulipala R; Frascella M; Garcia A; Pellegrino LJ; Xu S; Brignol N; Toth MJ; Do HV; Lockhart DJ; Wustman BA; Valenzano KJ PLoS One; 2014; 9(7):e102092. PubMed ID: 25036864 [TBL] [Abstract][Full Text] [Related]
10. The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. Macías-Vidal J; Girós M; Guerrero M; Gascón P; Serratosa J; Bachs O; Coll MJ FEBS J; 2014 Oct; 281(19):4450-66. PubMed ID: 25131710 [TBL] [Abstract][Full Text] [Related]
11. Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. Tajima Y; Saito S; Ohno K; Tsukimura T; Tsujino S; Sakuraba H J Hum Genet; 2011 Jun; 56(6):440-6. PubMed ID: 21471980 [TBL] [Abstract][Full Text] [Related]
12. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. Bali DS; Tolun AA; Goldstein JL; Dai J; Kishnani PS Muscle Nerve; 2011 May; 43(5):665-70. PubMed ID: 21484825 [TBL] [Abstract][Full Text] [Related]
13. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease. Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324 [TBL] [Abstract][Full Text] [Related]
14. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. Maimaiti M; Takahashi S; Okajima K; Suzuki N; Ohinata J; Araki A; Tanaka H; Mukai T; Fujieda K J Hum Genet; 2009 Aug; 54(8):493-6. PubMed ID: 19609281 [TBL] [Abstract][Full Text] [Related]
15. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Fraites TJ; Schleissing MR; Shanely RA; Walter GA; Cloutier DA; Zolotukhin I; Pauly DF; Raben N; Plotz PH; Powers SK; Kessler PD; Byrne BJ Mol Ther; 2002 May; 5(5 Pt 1):571-8. PubMed ID: 11991748 [TBL] [Abstract][Full Text] [Related]
16. Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations. Alila-Fersi O; Aloulou H; Werteni I; Mahfoudh N; Chabchoub I; Kammoun H; Keskes L; Hachicha M; Belguith N; Fakhfakh F J Mol Neurosci; 2020 Jul; 70(7):1100-1109. PubMed ID: 32125626 [TBL] [Abstract][Full Text] [Related]
17. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts. Yang HW; Kikuchi T; Hagiwara Y; Mizutani M; Chen YT; Van Hove JL Pediatr Res; 1998 Mar; 43(3):374-80. PubMed ID: 9505277 [TBL] [Abstract][Full Text] [Related]
18. Stabilising normal and mis-sense variant alpha-glucosidase. Kakavanos R; Hopwood JJ; Lang D; Meikle PJ; Brooks DA FEBS Lett; 2006 Aug; 580(18):4365-70. PubMed ID: 16846599 [TBL] [Abstract][Full Text] [Related]
19. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. McCready ME; Carson NL; Chakraborty P; Clarke JT; Callahan JW; Skomorowski MA; Chan AK; Bamforth F; Casey R; Rupar CA; Geraghty MT Mol Genet Metab; 2007 Dec; 92(4):325-35. PubMed ID: 17723315 [TBL] [Abstract][Full Text] [Related]
20. Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease. Aung-Htut MT; Ham KA; Tchan M; Johnsen R; Schnell FJ; Fletcher S; Wilton SD Sci Rep; 2020 Apr; 10(1):6702. PubMed ID: 32317649 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]