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Items: 1 to 20 of 211

1.

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. doi: 10.1016/j.ymgme.2014.02.002. Epub 2014 Feb 13.

PMID:
24581871
2.

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.

Martin DR, Rigat BA, Foureman P, Varadarajan GS, Hwang M, Krum BK, Smith BF, Callahan JW, Mahuran DJ, Baker HJ.

Mol Genet Metab. 2008 Jun;94(2):212-21. doi: 10.1016/j.ymgme.2008.02.004. Epub 2008 Mar 18.

3.

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.

PMID:
15714521
4.

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 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.

PMID:
25600812
5.

Development of lysosomal storage in mice with targeted disruption of the beta-galactosidase gene: a model of human G(M1)-gangliosidosis.

Itoh M, Matsuda J, Suzuki O, Ogura A, Oshima A, Tai T, Suzuki Y, Takashima S.

Brain Dev. 2001 Oct;23(6):379-84.

PMID:
11578847
6.

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 15;348 Pt 3:621-32.

7.

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. Epub 2005 Jun 8.

8.
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10.

Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice.

Hauser EC, Kasperzyk JL, d'Azzo A, Seyfried TN.

Biochem Genet. 2004 Aug;42(7-8):241-57.

PMID:
15487588
12.

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. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

13.

Dysmyelinogenesis in animal model of GM1 gangliosidosis.

Kaye EM, Alroy J, Raghavan SS, Schwarting GA, Adelman LS, Runge V, Gelblum D, Thalhammer JG, Zuniga G.

Pediatr Neurol. 1992 Jul-Aug;8(4):255-61.

PMID:
1388413
14.

Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.

Heinecke KA, Luoma A, d'Azzo A, Kirschner DA, Seyfried TN.

ASN Neuro. 2015 Feb 18;7(1). pii: 1759091415568913. doi: 10.1177/1759091415568913. Print 2015 Jan-Feb.

15.

Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA.

Balestrin RC, Baldo G, Vieira MB, Sano R, Coelho JC, Giugliani R, Matte U.

Braz J Med Biol Res. 2008 Apr;41(4):283-8.

16.

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 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30.

PMID:
25936995
17.

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Brunetti-Pierri N, Scaglia F.

Mol Genet Metab. 2008 Aug;94(4):391-6. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3. Review.

PMID:
18524657
18.

Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis.

Matsuda J, Suzuki O, Oshima A, Ogura A, Noguchi Y, Yamamoto Y, Asano T, Takimoto K, Sukegawa K, Suzuki Y, Naiki M.

Glycoconj J. 1997 Sep;14(6):729-36.

PMID:
9337086
19.

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. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.

PMID:
20175788
20.

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.

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