Literature DB >> 12555949

A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs.

O Yamato1, D Endoh, A Kobayashi, Y Masuoka, M Yonemura, A Hatakeyama, H Satoh, M Tajima, M Yamasaki, Y Maede.   

Abstract

A homozygous recessive mutation, causing GM1-gangliosidosis in Shiba dogs, was identified as a deletion of C nucleotide 1668 in the gene for canine acid beta-galactosidase, which was a novel mutation in canine GM1-gangliosidosis.

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Year:  2002        PMID： 12555949     DOI： 10.1023/a:1021280007739

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  2 in total

1.  GM1 gangliosidosis in shiba dogs.

Authors:  O Yamato; K Ochiai; Y Masuoka; E Hayashida; M Tajima; S Omae; M Iijima; T Umemura; Y Maede
Journal:  Vet Rec       Date:  2000-04-22       Impact factor: 2.695

2.  Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.

Authors:  Z H Wang; B Zeng; H Shibuya; G S Johnson; J Alroy; G M Pastores; S Raghavan; E H Kolodny
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982
  2 in total
  13 in total

Review 1.  The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Authors:  Debra S Regier; Richard L Proia; Alessandra D'Azzo; Cynthia J Tifft
Journal:  Pediatr Endocrinol Rev       Date:  2016-06

2.  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

3.  A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.

Authors:  Robert Kreutzer; Tosso Leeb; Gundi Müller; Andreas Moritz; Wolfgang Baumgärtner
Journal:  Genetics       Date:  2005-06-08       Impact factor: 4.562

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

5.  Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease.

Authors:  Daisuke Hasegawa; Osamu Yamato; Yuya Nakamoto; Tsuyoshi Ozawa; Akira Yabuki; Kazuhito Itamoto; Takayuki Kuwabara; Michio Fujita; Kimimasa Takahashi; Shunta Mizoguchi; Hiromitsu Orima
Journal:  ScientificWorldJournal       Date:  2012-03-12

6.  GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Authors:  A Kolicheski; G S Johnson; N A Villani; D P O'Brien; T Mhlanga-Mutangadura; D A Wenger; K Mikoloski; J S Eagleson; J F Taylor; R D Schnabel; M L Katz
Journal:  J Vet Intern Med       Date:  2017-08-20       Impact factor: 3.333

7.  The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany.

Authors:  Bart J G Broeckx; Frank Coopman; Geert E C Verhoeven; Wim Van Haeringen; Leanne van de Goor; Tim Bosmans; Ingrid Gielen; Jimmy H Saunders; Sandra S A Soetaert; Henri Van Bree; Christophe Van Neste; Filip Van Nieuwerburgh; Bernadette Van Ryssen; Elien Verelst; Katleen Van Steendam; Dieter Deforce
Journal:  PLoS One       Date:  2013-09-19       Impact factor: 3.240

8.  Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency.

Authors:  Mohammad M Uddin; Sayaka Arata; Yukari Takeuchi; Hye-Sook Chang; Keijiro Mizukami; Akira Yabuki; Mohammad M Rahman; Moeko Kohyama; Mohammad A Hossain; Kenji Takayama; Osamu Yamato
Journal:  BMC Vet Res       Date:  2013-07-03       Impact factor: 2.741

9.  Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.

Authors:  R Kreutzer; M Kreutzer; M J Pröpsting; A C Sewell; T Leeb; H Y Naim; W Baumgärtner
Journal:  J Cell Mol Med       Date:  2007-12-14       Impact factor: 5.310

10.  Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

Authors:  P Wang; P S Henthorn; E Galban; G Lin; T Takedai; M Casal
Journal:  J Vet Intern Med       Date:  2017-11-06       Impact factor: 3.333
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