Skeletal-muscle α-glucosidases in bovine generalized glycogenosis type II

Dorling, P. R.; Howell, John C.; Gawthorne, J. M.

doi:10.1042/bj1980409

Cited by 12 publications

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Animal Models (a) Cattle models Generalized GSD-II was described in Shorthorn cattle in 1977 by Richards et al [136]. Tissue homogenates of calves retain some residual GAA activity (about 3% of normal levels) [137]. More than 50% of affected cattle showed generalized muscle weakness, respiratory distress, clinical and pathological signs of congestive heart failure with an increased heart weight.…”

Section: (B) Gene Therapy For Gsd-ibmentioning

confidence: 99%

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Almodóvar-Payá

Villarreal-Salazar

Luna

et al. 2020

IJMS

View full text Add to dashboard Cite

GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.

show abstract

Section: (B) Gene Therapy For Gsd-ibmentioning

confidence: 99%

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Almodóvar-Payá

Villarreal-Salazar

Luna

et al. 2020

IJMS

View full text Add to dashboard Cite

show abstract

Hereditary neurovisceral mannosidosis associated with?-mannosidase deficiency in a family of Persian cats

et al. 1982

View full text Add to dashboard Cite

Several kittens in a family of Persian cats had a metabolic storage disease. Clinically the disorder was characterized by hepatomegaly, neurological signs and early death. The microscopic lesions consisted of widespread vacuolation of neurons and glial cells in the central nervous system and in liver cells. Electronmicroscopically the lesions consisted of intracytoplasmic accumulation of membrane-bound "empty" vacuoles. In addition to the storage disease, poor myelination of the cerebral white matter was found. The defect was reproduced in breeding trials. On biochemical analysis of brain tissue, deficient function of the enzyme alpha-mannosidase was detected. The clinical and pathological features of mannosidosis in Persian cats were compared to similar defects in other species.

show abstract

Glycogen storage diseases in animals and their potential value as models of human disease

Walvoort

1982

J of Inher Metab Disea

View full text Add to dashboard Cite

Glycogen storage diseases (GSD) are inborn errors of glycogen metabolism. Of the eight human GSD types in which the enzymatic deficiency has been identified, spontaneous animal counterparts have been reported for GSD I (glucose-6-phosphatase deficiency) in the mouse, for GSD II (acid alpha-glucosidase deficiency) in the dog, in cattle and in the quail, for GSD III (debrancher enzyme deficiency) in the dog and for GSD VIII (phosphorylase kinase deficiency) in the rat and the mouse. Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). Enzymatic defects that are typical of the human GSD types have not been clearly identified in the induced animal conditions. The homology of animal and human GSD types is discussed. It is concluded that clinical, pathogenic and therapeutic studies of GSD may benefit from the use of animal models. For genetic studies of human GSD these models may prove to be of limited value, as the picture of several human GSD types is already obscured by genetic heterogeneity.

show abstract

Skeletal-muscle α-glucosidases in bovine generalized glycogenosis type II

Cited by 12 publications

References 14 publications

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Hereditary neurovisceral mannosidosis associated with?-mannosidase deficiency in a family of Persian cats

Glycogen storage diseases in animals and their potential value as models of human disease

Contact Info

Product

Resources

About