Richie. Khanna, et.al., The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease., PloS one, 2014, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/25036864

Richie. Khanna, et.al., The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease., PloS one, 2014, 9

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Tg(CMV-GAA*P545L)#Kjv
  http://metadb.riken.jp/db/mgi_rdf/MGI:5620661

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• increased glycogen level_Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0
  http://metadb.riken.jp/0005440I129X1SvJC57BL6Gaatm1RabnGaatm1RabnTgCMVGAAP545LKjv0TgCMVGAAP545LKjvGaatm1Rabn
• increased skeletal muscle glycogen level_Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0
  http://metadb.riken.jp/0010401I129X1SvJC57BL6Gaatm1RabnGaatm1RabnTgCMVGAAP545LKjv0TgCMVGAAP545LKjvGaatm1Rabn
• abnormal lysosome physiology_Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0
  http://metadb.riken.jp/0003172I129X1SvJC57BL6Gaatm1RabnGaatm1RabnTgCMVGAAP545LKjv0TgCMVGAAP545LKjvGaatm1Rabn

class

http://purl.org/net/cito/citesAsAuthority

• Tg(CMV-GAA*P545L)#Kjv
  http://metadb.riken.jp/db/mgi_rdf/MGI:5620661