Literature DB >> 8500799

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

Y Suzuki1, A Oshima.   

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Year:  1993        PMID： 8500799     DOI： 10.1007/BF00217370

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


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  3 in total

1.  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

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

Authors:  G Mosna; S Fattore; G Tubiello; S Brocca; M Trubia; E Gianazza; R Gatti; C Danesino; A Minelli; M Piantanida
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

3.  Human beta-galactosidase gene mutations in morquio B disease.

Authors:  A Oshima; K Yoshida; M Shimmoto; Y Fukuhara; H Sakuraba; Y Suzuki
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025
  3 in total
  7 in total

1.  Protocols to detect senescence-associated beta-galactosidase (SA-betagal) activity, a biomarker of senescent cells in culture and in vivo.

Authors:  Florence Debacq-Chainiaux; Jorge D Erusalimsky; Judith Campisi; Olivier Toussaint
Journal:  Nat Protoc       Date:  2009       Impact factor: 13.491

2.  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

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

Authors:  A Oshima; K Yoshida; K Itoh; R Kase; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

Review 4.  Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.

Authors:  L D Osellame; M R Duchen
Journal:  Br J Pharmacol       Date:  2014-04       Impact factor: 8.739

5.  Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

Authors:  Parvaneh Karimzadeh; Samaneh Naderi; Farzaneh Modarresi; Hassan Dastsooz; Hamid Nemati; Tayebeh Farokhashtiani; Bibi Shahin Shamsian; Soroor Inaloo; Mohammad Ali Faghihi
Journal:  BMC Med Genet       Date:  2017-07-17       Impact factor: 2.103

6.  Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Authors:  Sandra D K Kingma; Berten Ceulemans; Sandra Kenis; An I Jonckheere
Journal:  JIMD Rep       Date:  2021-03-18

7.  Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Authors:  Rita Fischetto; Valentina Palladino; Maria M Mancardi; Thea Giacomini; Stefano Palladino; Alberto Gaeta; Maja Di Rocco; Lucia Zampini; Giuseppe Lassandro; Vito Favia; Maria E Tripaldi; Pietro Strisciuglio; Alfonso Romano; Mariasavina Severino; Amelia Morrone; Paola Giordano
Journal:  Mol Genet Genomic Med       Date:  2020-08-11       Impact factor: 2.183
  7 in total

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