Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Emily Gault"'
Autor:
Cynthia N. Perry, Yusu Gu, William H. Bradford, Matthew R.G. Taylor, Anne N. Murphy, Kenneth L. Jones, Bradley C. Nelson, Neil C. Chi, Kirk L. Peterson, Ajit S. Divakaruni, Nancy D. Dalton, Sherin Hashem, Teisha J. Rowland, Eric Adler, Emily Gault, Matthew Klos, Ju Chen, Eric J. Devaney
Publikováno v:
Journal of Molecular and Cellular Cardiology. 108:86-94
Rationale Lysosomal associated membrane protein type-2 (LAMP-2) is a highly conserved, ubiquitous protein that is critical for autophagic flux. Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac656ace73fa8f8ec20938abba4c14ca
https://doi.org/10.1016/j.yjmcc.2017.05.007
https://doi.org/10.1016/j.yjmcc.2017.05.007
Autor:
Sherin Hashem, Kirk H. Hammond, Emily Gault, Kirk L. Peterson, Angel Soto-Hermida, Annahita Keravala, Nancy D. Dalton, Ana Maria Manso, Julius Bogomolovas, Paul Saftig, Yusu Gu, Elizza Villarruel, Gaurav D. Shah, Bradley C. Nelson, Pavan K. Battiprolu, Eric Adler, Jonathan D. Schwartz, Chao Chen, Paul J. Bushway, Michela Brambatti
Publikováno v:
Science translational medicine. 12(535)
Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal muscle, and liver. There are no specific treatments, and most male patients die from advanced heart failure durin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e673bebb7ca02073b9cdcee4a5d8a25a
https://pubmed.ncbi.nlm.nih.gov/32188720
https://pubmed.ncbi.nlm.nih.gov/32188720
Publikováno v:
Journal of the American College of Cardiology. 73:687
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78cf2b0c48c9e0d69161cfc88a65225c
https://doi.org/10.1016/s0735-1097(19)31295-1
https://doi.org/10.1016/s0735-1097(19)31295-1
Publikováno v:
Circulation Research. 119
Danon disease is a familial cardiomyopathy associated with impaired autophagic flux due to mutations in the gene encoding lysosomal associated membrane protein type 2 (LAMP-2). The majority of patients die from progressive heart failure in their twen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::359cb11ddda9c57cfb612998d087458a
https://doi.org/10.1161/res.119.suppl_1.224
https://doi.org/10.1161/res.119.suppl_1.224