Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Euri S. Kim"'
Autor:
Euri S. Kim, Jennifer G. Casey, Brian S. Tao, Arian Mansur, Nishanthi Mathiyalagan, E. Diane Wallace, Brandie M. Ehrmann, Vandana A. Gupta
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 9 (2023)
Externí odkaz:
https://doaj.org/article/0300a9fcb1b64aefa6550623a8f2e3f8
Publikováno v:
Human Molecular Genetics. 32:1711-1721
Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or childhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor function. NM is a genetic disorder and mutations in 12 genes are known to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::678f594c92d738b826b8da8f88d38ab3
https://doi.org/10.1093/hmg/ddad011
https://doi.org/10.1093/hmg/ddad011
Rhabdomyolysis is a clinical emergency characterized by severe muscle damage resulting in the release of intracellular muscle components leading to myoglobinuria and in severe cases, acute kidney failure. Rhabdomyolysis is caused by genetic factors t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8247fd5015a6851a404826374f6e520
https://doi.org/10.1101/2022.11.12.516274
https://doi.org/10.1101/2022.11.12.516274
Autor:
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta
Publikováno v:
eLife, Vol 12 (2023)
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy. However, the mechanistic understanding of specific components of the regulation of protein tu
Externí odkaz:
https://doaj.org/article/e9f154452fff4bc5b183818788e75991