| 1 | GLB1, MPS4B
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| GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
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| 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.
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| Hum Mutat 30(8):1214-21.PMID: 19472408 2009
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| 2 | GLB1, GLB1A
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| Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
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| Santamaria R, Blanco M, Chabas A, Grinberg D, Vilageliu L.
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| Clin Genet 71(3):273-9. 2007
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| 3 | GLB1, MPS4B
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| Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
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| Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B.
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| Hum Genet 109(2):159-66.
2001
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| 4 | GLB1, GLB1A
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| beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
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| Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E.
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| Hum Mutat 15(4):354-66. 2000
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| 5 | GLB1
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| 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.
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| Hinek A, Zhang S, Smith AC, Callahan JW.
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| Am J Hum Genet 67(1):23-36. 2000
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| 6 | GLB1, MPS4B
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| 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.
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| Hinek A, Zhang S, Smith AC, Callahan JW.
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| Am J Hum Genet 67(1):23-36. Epub 2000 Jun 6.
2000
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| 7 | GLB1, MPS4B, CTSA
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| Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
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| Callahan JW.
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| Biochim Biophys Acta 1455(2-3):85-103. Review 1999
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| 8 | GLB1, GLB1A
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| The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.
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| Privitera S, Prody CA, Callahan JW, Hinek A.
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| J Biol Chem 273(11):6319-26. 1998
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| 9 | GLB1
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| Biological roles of the non-integrin elastin/laminin receptor.
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| Hinek A.
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| Biol Chem 377(7-8):471-80. Review. 1996
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| 10 | GLB1, GLB1A
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| Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
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| Oshima A, et al.
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| Hum Genet 93 : 109-114. 1994
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| 11 | GLB1
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| Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile Gm1-gangliosidosis.
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| Morrone A, et al.
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| Hum Mutat 3 : 112-120. 1994
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| 12 | GLB1, GLB1A
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| Novel missense mutations in beta-galactosidase that result in GM1-gangliosidosis. (abstr)
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| Hilson WL, et al.
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| Am J Hum Genet 55 : A223. 1994
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| 13 | GLB1
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| Nature and the multiple functions of the 67-kD elastin-/laminin binding protein.
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| Hinek A.
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| Cell Adhes Commun 2(3):185-93. Review. 1994
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| 14 | GLB1, MPS4B
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| A beta-galactosidase gene mutation identified in both Morquio B disease and infantile Gm1 gangliosidosis.
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| Suzuki Y, et al.
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| Hum Genet 91 : 407. 1993
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| 15 | GLB1
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| Mutations in acid beta-galactosidase cause GM,-gangliosidosis in American patients.
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| Boustany RM, et al.
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| Am J Hum Genet 53 : 881-888. 1993
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| 16 | GLB1
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| Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.
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| Takano T, et al.
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| Hum Genet 92 : 403-403. 1993
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| 17 | GLB1
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| The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.
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| Hinek A, et al.
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| J Clin Invest 91(3):1198-205. 1993
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| 18 | GLB1
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| GM1-gangliosidosis : tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
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| Oshima A, et al.
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| Clin Genet 41 : 235-238. 1992
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| 19 | GLB1
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| GM1 gangliosidosis in adults : clinical and molecular analysis of 16 Japanese patients.
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| Yoshida K, et al.
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| Ann Neurol 31 : 328-332. 1992
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| 20 | ALAS1, GLB1, TSG3B
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| Definition of a tumor suppressor locus within human chromosome 3p21-p22.
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| McNeill Killary A, et al.
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| Proc Natl Acad Sci U S A 89 : 10877-10881. 1992
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| 21 | GLB1
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| Human beta-galactosidase gene mutations in Gm1-gangliosidosis : a common mutation among Japanese adult/chronic cases.
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| Yoshida K, et al.
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| Am J Hum Genet 49 : 435-442. 1991
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| 22 | GLB1, GLB1A
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| GMI-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
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| Nishimoto J, et al.
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| Am J Hum Genet 49 : 566-574. 1991
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| 23 | GLB1, MPS4B
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| Human beta-galactosidase gene mutations in Morquio B disease.
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| Oshima A, et al.
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| Am J Hum Genet 49 : 1091-1093. 1991
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| 24 | GBA, GLB1
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| Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
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| Latham T, Grabowski GA, Theophilus BD, Smith FI.
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| Am J Hum Genet 47(1):79-86. 1990
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| 25 | GLB1
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| Regional mapping of the human beta-galactosidase gene using a cDNA probe.
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| Geihl D, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1001-1002. 1989
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| 26 | GLB1
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| Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
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| Morreau H, Galjart NJ, Gillemans N, Willemsen R, van der Horst GT, d'Azzo A.
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| J Biol Chem 264(34):20655-63. 1989
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| 27 | GLB1
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| Mapping of the beta-galactosidase-1 gene (GLB1) to the pter-q13 region of human chromosome 3.
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| Naylor SL, et al.
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| Cytogenet Cell Genet 25 : 191. 1979
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| 28 | GLB1
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| GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta-GAL-A).
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| Shows TB, et al.
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| Somatic Cell Genet 5 : 147-158. 1979
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| 29 | GLB1, GLB1A
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| Generalized gangliosidosis: beta-galactosidase deficiency.
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| Okada S, et al.
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| Science 160 : 1002-1004. 1968
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| 30 | GLB1
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| Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabas A.
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| Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis dentification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. 0
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