BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 17221873)

  • 1. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
    Caciotti A; Donati MA; Procopio E; Filocamo M; Kleijer W; Wuyts W; Blaumeiser B; d'Azzo A; Simi L; Orlando C; McKenzie F; Fiumara A; Zammarchi E; Morrone A
    Hum Mutat; 2007 Feb; 28(2):204. PubMed ID: 17221873
    [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. 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]  

  • 4. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
    Feng Y; Huang Y; Zhao X; Sheng H; Feng Y; Zhang W; Liu L
    Metab Brain Dis; 2018 Dec; 33(6):2051-2057. PubMed ID: 30267299
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent and novel GLB1 mutations in India.
    Bidchol AM; Dalal A; Trivedi R; Shukla A; Nampoothiri S; Sankar VH; Danda S; Gupta N; Kabra M; Hebbar SA; Bhat RY; Matta D; Ekbote AV; Puri RD; Phadke SR; Gowrishankar K; Aggarwal S; Ranganath P; Sharda S; Kamate M; Datar CA; Bhat K; Kamath N; Shah H; Krishna S; Gopinath PM; Verma IC; Nagarajaram HA; Satyamoorthy K; Girisha KM
    Gene; 2015 Aug; 567(2):173-81. PubMed ID: 25936995
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
    Lee JS; Choi JM; Lee M; Kim SY; Lee S; Lim BC; Cheon JE; Kim IO; Kim KJ; Choi M; Seong MW; Chae JH
    Brain Dev; 2018 May; 40(5):383-390. PubMed ID: 29439846
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
    Richter JE; Zimmermann MT; Blackburn PR; Mohammad AN; Klee EW; Pollard LM; Macmurdo CF; Atwal PS; Caulfield TR
    Mol Genet Genomic Med; 2018 Nov; 6(6):1229-1235. PubMed ID: 30187681
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
    Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D; Battini R; Sibilio M; Simonati A; Fontana E; Salviati A; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S; Pasquini E; Guerrini R; Donati MA; Morrone A
    Biochim Biophys Acta; 2011 Jul; 1812(7):782-90. PubMed ID: 21497194
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
    Karimzadeh P; Naderi S; Modarresi F; Dastsooz H; Nemati H; Farokhashtiani T; Shamsian BS; Inaloo S; Faghihi MA
    BMC Med Genet; 2017 Jul; 18(1):73. PubMed ID: 28716012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Morquio B disease: From pathophysiology towards diagnosis.
    Caciotti A; Cellai L; Tonin R; Mei D; Procopio E; Di Rocco M; Andaloro A; Antuzzi D; Rampazzo A; Rigoldi M; Forni G; la Marca G; Guerrini R; Morrone A
    Mol Genet Metab; 2021 Mar; 132(3):180-188. PubMed ID: 33558080
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.
    Lei HL; Ye J; Qiu WJ; Zhang HW; Han LS; Wang Y; Gu XF
    World J Pediatr; 2012 Nov; 8(4):359-62. PubMed ID: 23151865
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.
    Kreutzer R; Leeb T; Müller G; Moritz A; Baumgärtner W
    Genetics; 2005 Aug; 170(4):1857-61. PubMed ID: 15944348
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
    Kwak JE; Son MY; Son YS; Son MJ; Cho YS
    Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
    Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
    Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.