The detail information of Glycogen storage disease Ia
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: 1997

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
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 .
2019 Kang,H.R.,Gjorgjieva,M.,Smith,S.N.,Brooks,E.D.,Chen,Z.,Burgess,S.M.,Chandler,R.J.,Waskowicz,L.R.,Grady,K.M.,Li,S.,Mithieux,G.,Venditti,C.P.,Rajas,F.,Koeberl,D.D.: :
Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease. Mol Ther Methods Clin Dev 15:383-391, 2019.
Pubmed reference: 31890731 . DOI: 10.1016/j.omtm.2019.10.016 .
2018 Brooks,E.D.,Landau,D.J.,Everitt,J.I.,Brown,T.T.,Grady,K.M.,Waskowicz,L.,Bass,C.R.,D'Angelo,J.,Asfaw,Y.G.,Williams,K.,Kishnani,P.S.,Koeberl,D.D.: :
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. J Inherit Metab Dis :, 2018.
Pubmed reference: 30043186 . DOI: 10.1007/s10545-018-0223-y .
2018 Lee,Y.M.,Conlon,T.J.,Specht,A.,Coleman,K.E.,Brown,L.M.,Estrella,A.M.,Dambska,M.,Dahlberg,K.R.,Weinstein,D.A.: :
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia. J Inherit Metab Dis 41:977-984, 2018.
Pubmed reference: 29802554 . DOI: 10.1007/s10545-018-0199-7 .
2013 Brooks,E.D.,Little,D.,Arumugam,R.,Sun,B.,Curtis,S.,Demaster,A.,Maranzano,M.,Jackson,M.W.,Kishnani,P.,Freemark,M.S.,Koeberl,D.D.: :
Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab :, 2013.
Pubmed reference: 23623482 . DOI: 10.1016/j.ymgme.2013.03.018 .
2012 Demaster,A.,Luo,X.,Curtis,S.,Williams,K.D.,Landau,D.J.,Drake,E.J.,Kozink,D.M.,Bird,A.,Crane,B.,Sun,F.,Pinto,C.R.,Brown,T.T.,Kemper,A.R.,Koeberl,D.D.: :
Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther 23:407-18, 2012.
Pubmed reference: 22185325 . DOI: 10.1089/hum.2011.106 .
2012 Koeberl,D.D.: :
In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis 35:671-8, 2012.
Pubmed reference: 22310927 . DOI: 10.1007/s10545-012-9454-5 .
2011 Crane,B.,Luo,X.,Demaster,A.,Williams,KD.,Kozink,DM.,Zhang,P.,Brown,TT.,Pinto,CR.,Oka,K.,Sun,F.,Jackson,MW.,Chan,L.,Koeberl,DD.: :
Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther :, 2011.
Pubmed reference: 21654821 . DOI: 10.1038/gt.2011.86 .
2011 Specht,A.,Fiske,L.,Erger,K.,Cossette,T.,Verstegen,J.,Campbell-Thompson,M.,Struck,MB.,Lee,YM.,Chou,JY.,Byrne,BJ.,Correia,CE.,Mah,CS.,Weinstein,DA.,Conlon,TJ.: :
Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol 2011:646257, 2011.
Pubmed reference: 21318173 . DOI: 10.1155/2011/646257 .
2010 Weinstein,DA.,Correia,CE.,Conlon,T.,Specht,A.,Verstegen,J.,Onclin-Verstegen,K.,Campbell-Thompson,M.,Dhaliwal,G.,Mirian,L.,Cossette,H.,Falk,DJ.,Germain,S.,Clement,N.,Porvasnik,S.,Fiske,L.,Struck,M.,Ramirez,HE.,Jordan,J.,Andrutis,K.,Chou,JY.,Byrne,BJ.,Mah,CS.: :
Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21:903-10, 2010.
Pubmed reference: 20163245 . DOI: 10.1089/hum.2009.157 .
2009 Koeberl,D.D.,Pinto,C.,Brown,T.,Chen,Y.T.: :
Gene therapy for inhereted metabolic disorders in companion animals. ILAR J 50:122-7, 2009.
Pubmed reference: 19293457 .
2008 Koeberl,DD.,Pinto,C.,Sun,B.,Li,S.,Kozink,DM.,Benjamin,DK.,Demaster,AK.,Kruse,MA.,Vaughn,V.,Hillman,S.,Bird,A.,Jackson,M.,Brown,T.,Kishnani,PS.,Chen,YT.: :
AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther 16:665-72, 2008.
Pubmed reference: 18362924 . DOI: 10.1038/mt.2008.15 .
2002 Beaty,R.M.,Jackson,M.,Peterson,D.,Bird,A.,Brown,T.,Benjamin,D.K.,Juopperi,T.,Kishnani,P.,Boney,A.,Chen,Y.T.,Koeberl,D.D.: :
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors Gene Therapy 9:1015-1022, 2002.
Pubmed reference: 12101432 . DOI: 10.1038/sj.gt.3301728 .
2001 Kishnani,P.S.,Faulkner,E.,VanCamp,S.,Jackson,M.,Brown,T.,Boney,A.,Koeberl,D.,Chen,Y.T.: :
Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia) Veterinary Pathology 38:83-91, 2001.
Pubmed reference: 11199168 .
1997 Kishnani,P.S.,Bao,Y.,Wu,J.Y.,Brix,A.E.,Lin,J.L.,Chen,Y.T.: :
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-77, 1997.
Pubmed reference: 9259982 .
1995 Brix,A.E.,Howerth,E.W.,Mcconkierosell,A.,Peterson,D.,Egnor,D.,Wells,M.R.,Chen,Y.T.: :
Glycogen storage disease type Ia in two littermate maltese puppies Veterinary Pathology 32:460-465, 1995.
Pubmed reference: 8578635 .