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Items: 1 to 20 of 121

2.

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology.

Pshezhetsky AV, Ashmarina M.

Prog Nucleic Acid Res Mol Biol. 2001;69:81-114. Review.

PMID:
11550799
4.

Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

Oshima A, Yoshida K, Itoh K, Kase R, Sakuraba H, Suzuki Y.

Hum Genet. 1994 Feb;93(2):109-14.

PMID:
8112731
5.

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
6.

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Front S, Biela-Banaś A, Burda P, Ballhausen D, Higaki K, Caciotti A, Morrone A, Charollais-Thoenig J, Gallienne E, Demotz S, Martin OR.

Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.

PMID:
27750150
7.

Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T.

J Biol Chem. 2012 Jan 13;287(3):1801-12. doi: 10.1074/jbc.M111.293795. Epub 2011 Nov 28.

8.

Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.

Takiyama N, Itoh K, Shimmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y.

Brain Dev. 1997 Mar;19(2):126-30.

PMID:
9105659
9.

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.

10.

Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.

D'Agrosa RM, Hubbes M, Zhang S, Shankaran R, Callahan JW.

Biochem J. 1992 Aug 1;285 ( Pt 3):833-8.

11.

[Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].

Yoshida K, Yanagisawa N.

Nihon Rinsho. 1993 Sep;51(9):2269-75. Review. Japanese.

PMID:
8411701
12.

A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.

Suzuki Y, Oshima A.

Hum Genet. 1993 May;91(4):407. No abstract available.

PMID:
8500799
13.

Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.

Hoogeveen AT, Graham-Kawashima H, d'Azzo A, Galjaard H.

J Biol Chem. 1984 Feb 10;259(3):1974-7.

14.

Morquio B syndrome: a primary defect in beta-galactosidase.

van der Horst GT, Kleijer WJ, Hoogeveen AT, Huijmans JG, Blom W, van Diggelen OP.

Am J Med Genet. 1983 Oct;16(2):261-75.

PMID:
6418007
15.

Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion.

Condori J, Acosta W, Ayala J, Katta V, Flory A, Martin R, Radin J, Cramer CL, Radin DN.

Mol Genet Metab. 2016 Feb;117(2):199-209. doi: 10.1016/j.ymgme.2015.12.002. Epub 2015 Dec 8.

PMID:
26766614
16.
17.

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L.

J Lipid Res. 2007 Oct;48(10):2275-82. Epub 2007 Jul 30.

18.

Cathepsin A/protective protein: an unusual lysosomal multifunctional protein.

Hiraiwa M.

Cell Mol Life Sci. 1999 Dec;56(11-12):894-907. Review.

PMID:
11212324
19.

[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].

Yoshida K, Yanagisawa N.

Nihon Rinsho. 1995 Dec;53(12):2960-6. Review. Japanese.

PMID:
8577043
20.

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.

Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y.

Dev Neurosci. 1991;13(4-5):299-303. Review.

PMID:
1817034

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