Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Genesis Lung"'
Autor:
Irina Arnaoutova, Yvonne Aratyn-Schaus, Lisa Zhang, Michael S. Packer, Hung-Dar Chen, Cheol Lee, Sudeep Gautam, Francine M. Gregoire, Dominique Leboeuf, Steven Boule, Thomas P. Fernandez, Victoria Huang, Lo-I Cheng, Genesis Lung, Brianna Bannister, Jeremy Decker, Thomas Leete, Lan S. Shuang, Caroline Bock, Prachi Kothiyal, Phil Grayson, Ka W. Mok, Jeffrey J. Quinn, Lauren Young, Luis Barrera, Giuseppe Ciaramella, Brian C. Mansfield, Janice Y. Chou
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract 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 pa
Externí odkaz:
https://doaj.org/article/1c38d0d8440d47f7a99b6df3ac6049c0
Autor:
Michael S. Packer, Vivek Chowdhary, Genesis Lung, Lo-I Cheng, Yvonne Aratyn-Schaus, Dominique Leboeuf, Sarah Smith, Aalok Shah, Delai Chen, Marina Zieger, Brian J. Cafferty, Bo Yan, Giuseppe Ciaramella, Francine M. Gregoire, Christian Mueller
Publikováno v:
Mol Ther
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal codominant disease caused by mutations within the SERPINA1 gene. The most prevalent variant in patients is PiZ SERPINA1, containing a single G > A transition mutation. PiZ alpha-1 antitrypsin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36644562d320c3f61f413b126663bc6b
https://pubmed.ncbi.nlm.nih.gov/35121111
https://pubmed.ncbi.nlm.nih.gov/35121111