Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage diseas...
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia
About this item
Full title
Author / Creator
Arnaoutova, Irina , Aratyn-Schaus, Yvonne , Zhang, Lisa , Packer, Michael S. , Chen, Hung-Dar , Lee, Cheol , Gautam, Sudeep , Gregoire, Francine M. , Leboeuf, Dominique , Boule, Steven , Fernandez, Thomas P. , Huang, Victoria , Cheng, Lo-I , Lung, Genesis , Bannister, Brianna , Decker, Jeremy , Leete, Thomas , Shuang, Lan S. , Bock, Caroline , Kothiyal, Prachi , Grayson, Phil , Mok, Ka W. , Quinn, Jeffrey J. , Young, Lauren , Barrera, Luis , Ciaramella, Giuseppe , Mansfield, Brian C. and Chou, Janice Y.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Glycogen storage disease type-Ia patients, deficient in the
G6PC1
gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pathogenic
G6PC1
-R83C variant displays the phenotype of glycogen storage disease type-Ia and dies p...
Alternative Titles
Full title
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia
Authors, Artists and Contributors
Author / Creator
Aratyn-Schaus, Yvonne
Zhang, Lisa
Packer, Michael S.
Chen, Hung-Dar
Lee, Cheol
Gautam, Sudeep
Gregoire, Francine M.
Leboeuf, Dominique
Boule, Steven
Fernandez, Thomas P.
Huang, Victoria
Cheng, Lo-I
Lung, Genesis
Bannister, Brianna
Decker, Jeremy
Leete, Thomas
Shuang, Lan S.
Bock, Caroline
Kothiyal, Prachi
Grayson, Phil
Mok, Ka W.
Quinn, Jeffrey J.
Young, Lauren
Barrera, Luis
Ciaramella, Giuseppe
Mansfield, Brian C.
Chou, Janice Y.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1c38d0d8440d47f7a99b6df3ac6049c0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1c38d0d8440d47f7a99b6df3ac6049c0
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-54108-1
