Biochemical Genetics of Glycogenosis Type II in Brahman Cattle

Wisselaar H.A., Hermans M.M.P., Visser W.J., Kroos M.A., Oostra B.A., Aspden W., Harrison B., Hetzel D.J.S., Reuser A.J.J. and Drinkwater R.D. (1993) Biochemical Genetics of Glycogenosis Type II in Brahman Cattle. Biochemical and Biophysical Research Communications, 190 3: 941-947. doi:10.1006/bbrc.1993.1140

Author Wisselaar H.A.
Hermans M.M.P.
Visser W.J.
Kroos M.A.
Oostra B.A.
Aspden W.
Harrison B.
Hetzel D.J.S.
Reuser A.J.J.
Drinkwater R.D.
Title Biochemical Genetics of Glycogenosis Type II in Brahman Cattle
Journal name Biochemical and Biophysical Research Communications
ISSN 0006291X 10902104
Publication date 1993-02-01
Sub-type Article (original research)
DOI 10.1006/bbrc.1993.1140
Volume 190
Issue 3
Start page 941
End page 947
Total pages 7
Language eng
Subject 1304 Biophysics
1303 Biochemistry
1312 Molecular Biology
1307 Cell Biology
Abstract Glycogenosis type II is an inherited lysosomal storage disorder caused by acid α-glucosidase deficiency. The disorder is inbred in Brahman cattle, and the incidence of carriers in Australian herds averages 15%. Affected animals are lethargic and die typically in the eighth or ninth month after birth, A complete lack of acid α-glucosidase synthesis was demonstrated in cultured fibroblasts and muscle tissue of affected animals. Moreover, the tissue was found to be devoid of acid α-glucosidase mRNA. Gross abnormalities of the acid α-glucosidase gene itself were not detected by Southern blot analysis. These results suggest Brahman glycogenosis type II to be caused by a point mutation or a micro deletion/insertion in the acid α-glucosidase gene.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import - Archived
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Citation counts: TR Web of Science Citation Count  Cited 9 times in Thomson Reuters Web of Science Article | Citations
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