223 related articles for article (PubMed ID: 16314480)
1. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
Caciotti A; Donati MA; Bardelli T; d'Azzo A; Massai G; Luciani L; Zammarchi E; Morrone A
Am J Pathol; 2005 Dec; 167(6):1689-98. PubMed ID: 16314480
[TBL] [Abstract][Full Text] [Related]
2. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Caciotti A; Donati MA; Boneh A; d'Azzo A; Federico A; Parini R; Antuzzi D; Bardelli T; Nosi D; Kimonis V; Zammarchi E; Morrone A
Hum Mutat; 2005 Mar; 25(3):285-92. PubMed ID: 15714521
[TBL] [Abstract][Full Text] [Related]
3. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A; Zhang S; Smith AC; Callahan JW
Am J Hum Genet; 2000 Jul; 67(1):23-36. PubMed ID: 10841810
[TBL] [Abstract][Full Text] [Related]
4. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
[TBL] [Abstract][Full Text] [Related]
5. Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.
Hinek A; Braun KR; Liu K; Wang Y; Wight TN
Am J Pathol; 2004 Jan; 164(1):119-31. PubMed ID: 14695326
[TBL] [Abstract][Full Text] [Related]
6. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
[TBL] [Abstract][Full Text] [Related]
7. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Georgiou T; Stylianidou G; Anastasiadou V; Caciotti A; Campos Y; Zammarchi E; Morrone A; D'azzo A; Drousiotou A
Genet Test; 2005; 9(2):126-32. PubMed ID: 15943552
[TBL] [Abstract][Full Text] [Related]
8. Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
Zhang S; Bagshaw R; Hilson W; Oho Y; Hinek A; Clarke JT; Callahan JW
Biochem J; 2000 Jun; 348 Pt 3(Pt 3):621-32. PubMed ID: 10839995
[TBL] [Abstract][Full Text] [Related]
9. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; D'Azzo A
Hum Mutat; 2004 Oct; 24(4):352. PubMed ID: 15365997
[TBL] [Abstract][Full Text] [Related]
10. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A; Bardelli T; Donati MA; Giorgi M; Di Rocco M; Gatti R; Parini R; Ricci R; Taddeucci G; D'Azzo A; Zammarchi E
Hum Mutat; 2000; 15(4):354-66. PubMed ID: 10737981
[TBL] [Abstract][Full Text] [Related]
11. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva CM; Severini MH; Sopelsa A; Coelho JC; Zaha A; d'Azzo A; Giugliani R
Hum Mutat; 1999; 13(5):401-9. PubMed ID: 10338095
[TBL] [Abstract][Full Text] [Related]
12. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D; Paul K; Fantur K; Beck M; Bürger F; Caillaud C; Fumic K; Ledvinova J; Lugowska A; Michelakakis H; Radeva B; Ramaswami U; Plecko B; Paschke E
Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
[TBL] [Abstract][Full Text] [Related]
13. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Hinek A; Wilson SE
Am J Pathol; 2000 Mar; 156(3):925-38. PubMed ID: 10702409
[TBL] [Abstract][Full Text] [Related]
14. GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.
Muthupalani S; Torres PA; Wang BC; Zeng BJ; Eaton S; Erdelyi I; Ducore R; Maganti R; Keating J; Perry BJ; Tseng FS; Waliszewski N; Pokras M; Causey R; Seger R; March P; Tidwell A; Pfannl R; Seyfried T; Kolodny EH; Alroy J
Mol Genet Metab; 2014 Apr; 111(4):513-21. PubMed ID: 24581871
[TBL] [Abstract][Full Text] [Related]
15. New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.
Malvagia S; Morrone A; Caciotti A; Bardelli T; d'Azzo A; Ancora G; Zammarchi E; Donati MA
Mol Genet Metab; 2004 May; 82(1):48-55. PubMed ID: 15110321
[TBL] [Abstract][Full Text] [Related]
16. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
[TBL] [Abstract][Full Text] [Related]
17. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
[TBL] [Abstract][Full Text] [Related]
18. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
Hinek A; Smith AC; Cutiongco EM; Callahan JW; Gripp KW; Weksberg R
Am J Hum Genet; 2000 Mar; 66(3):859-72. PubMed ID: 10712202
[TBL] [Abstract][Full Text] [Related]
19. Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
Yang CF; Wu JY; Tsai FJ
J Biomed Sci; 2010 Sep; 17(1):79. PubMed ID: 20920281
[TBL] [Abstract][Full Text] [Related]
20. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Caciotti A; Bardelli T; Cunningham J; D'Azzo A; Zammarchi E; Morrone A
Hum Genet; 2003 Jul; 113(1):44-50. PubMed ID: 12644936
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
