Literature DB >> 1487238

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

G Mosna1, S Fattore, G Tubiello, S Brocca, M Trubia, E Gianazza, R Gatti, C Danesino, A Minelli, M Piantanida.   

Abstract

We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.

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Year:  1992        PMID： 1487238     DOI： 10.1007/bf00220071

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

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Authors:  P Chomczynski; N Sacchi
Journal:  Anal Biochem       Date:  1987-04       Impact factor: 3.365

2.  Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

Authors:  A Oshima; A Tsuji; Y Nagao; H Sakuraba; Y Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1988-11-30       Impact factor: 3.575

Review 3.  Glycolipid and glycoprotein degradation.

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Journal:  Adv Enzymol Relat Areas Mol Biol       Date:  1987

4.  Progressive inactivation of the expression of an erythroid transcriptional factor in GM- and G-CSF-dependent myeloid cell lines.

Authors:  S Crotta; S Nicolis; A Ronchi; S Ottolenghi; L Ruzzi; Y Shimada; A R Migliaccio; G Migliaccio
Journal:  Nucleic Acids Res       Date:  1990-12-11       Impact factor: 16.971

5.  Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.

Authors:  H Morreau; N J Galjart; N Gillemans; R Willemsen; G T van der Horst; A d'Azzo
Journal:  J Biol Chem       Date:  1989-12-05       Impact factor: 5.157

6.  Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Authors:  K Yoshida; A Oshima; M Shimmoto; Y Fukuhara; H Sakuraba; N Yanagisawa; Y Suzuki
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  The complete sequence of a full length cDNA for human liver glyceraldehyde-3-phosphate dehydrogenase: evidence for multiple mRNA species.

Authors:  P Arcari; R Martinelli; F Salvatore
Journal:  Nucleic Acids Res       Date:  1984-12-11       Impact factor: 16.971

8.  Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Authors:  H Groebe; M Krins; H Schmidberger; K von Figura; K Harzer; H Kresse; E Paschke; A Sewell; K Ullrich
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

9.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

10.  GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Authors:  J Nishimoto; E Nanba; K Inui; S Okada; K Suzuki
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025
  10 in total
  4 in total

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

Authors:  Y Suzuki; A Oshima
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

2.  Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

Authors:  Victoria J McCurdy; Aime K Johnson; Heather L Gray-Edwards; Ashley N Randle; Brandon L Brunson; Nancy E Morrison; Nouha Salibi; Jacob A Johnson; Misako Hwang; Ronald J Beyers; Stanley G Leroy; Stacy Maitland; Thomas S Denney; Nancy R Cox; Henry J Baker; Miguel Sena-Esteves; Douglas R Martin
Journal:  Sci Transl Med       Date:  2014-04-09       Impact factor: 17.956

3.  Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.

Authors:  Brigitte A Rigat; Michael B Tropak; Justin Buttner; Ellen Crushell; Daphne Benedict; John W Callahan; Douglas R Martin; Don J Mahuran
Journal:  Mol Genet Metab       Date:  2012-06-19       Impact factor: 4.797

4.  Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.

Authors:  Douglas R Martin; Brigitte A Rigat; Polly Foureman; G S Varadarajan; Misako Hwang; Barbara K Krum; Bruce F Smith; John W Callahan; Don J Mahuran; Henry J Baker
Journal:  Mol Genet Metab       Date:  2008-03-18       Impact factor: 4.797
  4 in total

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