The detail information of Glycogen storage disease IIIa
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2007

Species-specific name: -

Species-specific symbol: GSD IIIa

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB81 Curly-Coated Retriever 63.5-68.6 cm (male), 58.4-63.5 cm (female) 27.2-43.1 kg United Kingdom (England)
Associated Gene
Symbol Description Species Position Other Links
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Canis lupus familiaris Chr6 : 50468323 - 50395404 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Almodóvar-Payá,A.,Villarreal-Salazar,M.,deLuna,N.,Nogales-Gadea,G.,Real-Martínez,A.,Andreu,A.L.,Martín,M.A.,Arenas,J.,Lucia,A.,Vissing,J.,Krag,T.,Pinós,T.: :
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020.
Pubmed reference: 33348688 . DOI: 10.3390/ijms21249621 .
2016 Brooks,E.D.,Yi,H.,Austin,S.L.,Thurberg,B.L.,Young,S.P.,Fyfe,J.C.,Kishnani,P.S.,Sun,B.: :
Natural Progression of Canine Glycogen Storage Disease Type IIIa. Comp Med 66:41-51, 2016.
Pubmed reference: 26884409 .
2014 Yi,H.,Brooks,E.D.,Thurberg,B.L.,Fyfe,J.C.,Kishnani,P.S.,Sun,B.: :
Correction of glycogen storage disease type III with rapamycin in a canine model. J Mol Med (Berl) :, 2014.
Pubmed reference: 24509886 . DOI: 10.1007/s00109-014-1127-4 .
2012 Yi,H.,Thurberg,B.L.,Curtis,S.,Austin,S.,Fyfe,J.,Koeberl,D.D.,Kishnani,P.S.,Sun,B.: :
Characterization of a canine model of glycogen storage disease type IIIa. Dis Model Mech 5:804-11, 2012.
Pubmed reference: 22736456 . DOI: 10.1242/dmm.009712 .
2007 Gregory,BL.,Shelton,GD.,Bali,DS.,Chen,YT.,Fyfe,JC.: :
Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007.
Pubmed reference: 17338148 .
1983 Walvoort,HC.: :
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983.
Pubmed reference: 6408305 .
1977 Otani,T.,Mochizuki,H.: :
[Glycogen storage disease (III ?) of dogs]. Jikken Dobutsu 26:172-3, 1977.
Pubmed reference: 267585 .
1976 Ceh,L.,Hauge,J.G.,Svenkerud,R.,Strande,A.: :
Glycogenosis type III in the dog. Acta Vet Scand 17:210-22, 1976.
Pubmed reference: 181976 .
1976 Rafiquzzaman,M.,Svenkerud,R.,Strande,A.,Hauge,J.G.: :
Glycogenosis in the dog. Acta Vet Scand 17:196-209, 1976.
Pubmed reference: 1066041 .