Literature DB >> 5120520

Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency.

H J Baker, J R Lindsey, G M McKhann, D F Farrell.   

Abstract

A juvenile Siamese cat with severe, progressive motor disability was shown to have extensive neuronal degeneration caused by accumulation of GM(1) ganglioside. Tissues from brain and kidney were markedly deficient in beta-galactosidase activity. The disease in this cat is thought to be inherited as an autosomal recessive trait, and is strikingly similar to juvenile GM(1) gangliosidosis of children.

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Year:  1971        PMID： 5120520     DOI： 10.1126/science.174.4011.838

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  36 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Generation and characterization of recombinant feline beta-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis.

Authors:  Tatiana I Samoylova; Douglas R Martin; Nancy E Morrison; Misako Hwang; Anna M Cochran; Alexandre M Samoylov; Henry J Baker; Nancy R Cox
Journal:  Metab Brain Dis       Date:  2008-04-18       Impact factor: 3.584

Review 3.  Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.

Authors:  Melani Solomon; Silvia Muro
Journal:  Adv Drug Deliv Rev       Date:  2017-05-11       Impact factor: 15.470

4.  Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders.

Authors:  Kim M Hemsley; John J Hopwood
Journal:  J Inherit Metab Dis       Date:  2010-05-07       Impact factor: 4.982

5.  GM2 gangliosidosis in a Japanese spaniel.

Authors:  J F Cummings; P A Wood; S U Walkley; A de Lahunta; M E DeForest
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

6.  High resolution MRI anatomy of the cat brain at 3 Tesla.

Authors:  Heather L Gray-Edwards; Nouha Salibi; Eleanor M Josephson; Judith A Hudson; Nancy R Cox; Ashley N Randle; Victoria J McCurdy; Allison M Bradbury; Diane U Wilson; Ronald J Beyers; Thomas S Denney; Douglas R Martin
Journal:  J Neurosci Methods       Date:  2014-02-10       Impact factor: 2.390

Review 7.  Gene therapy for lysosomal storage diseases (LSDs) in large animal models.

Authors:  Mark Haskins
Journal:  ILAR J       Date:  2009

8.  Canine GM1-gangliosidosis. A clinical, morphologic, histochemical, and biochemical comparison of two different models.

Authors:  J Alroy; U Orgad; R DeGasperi; R Richard; C D Warren; K Knowles; J G Thalhammer; S S Raghavan
Journal:  Am J Pathol       Date:  1992-03       Impact factor: 4.307

9.  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

10.  A canine model of human alpha-L-iduronidase deficiency.

Authors:  E Spellacy; R M Shull; G Constantopoulos; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1983-10       Impact factor: 11.205
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