Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Shmara A"'
Autor:
Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell, Virginia Kimonis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typically
Externí odkaz:
https://doaj.org/article/7c848dd1a64c4810b344df2a19224ac4
Autor:
Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimonis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopathy with Paget diseas
Externí odkaz:
https://doaj.org/article/d9fdf9b7670f4c1090146471cf151101
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy
Autor:
Cheng Cheng, Lan Weiss, Henri Leinonen, Alyaa Shmara, Hong Z. Yin, Timothy Ton, Annie Do, Jonathan Lee, Lac Ta, Eshanee Mohanty, Jesse Vargas, John Weiss, Krzysztof Palczewski, Virginia Kimonis
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-16 (2022)
Abstract Background Pathogenic gain of function variants in Valosin-containing protein (VCP) cause a unique disease characterized by inclusion body myopathy with early-onset Paget disease of bone and frontotemporal dementia (also known as Multisystem
Externí odkaz:
https://doaj.org/article/047fcc4efd8e4f29a84a34e918a72975
Autor:
Shmara, Alyaa1 (AUTHOR), Perez-Rosendahl, Mari2 (AUTHOR), Murphy, Kady1 (AUTHOR), Kwon, Ashley1 (AUTHOR), Smith, Charles3 (AUTHOR), Kimonis, Virginia1 (AUTHOR) vkimonis@uci.edu
Publikováno v:
Orphanet Journal of Rare Diseases. 7/15/2022, Vol. 17 Issue 1, p1-12. 12p.
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Krzysztof Palczewski, Alyaa Shmara, Timothy Ton, Cheng Cheng, Jesse D. Vargas, Marja Pitkänen, Virginia Kimonis, Lan Weiss, Teemu Turunen, Sama Saeid, Christopher L. Sander, Henri Leinonen, Lac Ta, Jianye Zhang, Ari Koskelainen
Publikováno v:
J Pharmacol Exp Ther
CB-5083 is an inhibitor of p97/valosin-containing protein (VCP), for which phase I trials for cancer were terminated because of adverse effects on vision, such as photophobia and dyschromatopsia. Lower dose CB-5083 could combat inclusion body myopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8fb228564901f8ebcb9daf9a902ee0
https://doi.org/10.1124/jpet.120.000486
https://doi.org/10.1124/jpet.120.000486
Autor:
Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis
Publikováno v:
Neurology. Genetics, vol 9, iss 1
Background and ObjectivesMissense variants of the valosin-containing protein (VCP) gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The disease is a constellation of clinical features including inclusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07adbd7264c60dfcb1f5ad64ab0da16
https://doi.org/10.1212/nxg.0000000000200037
https://doi.org/10.1212/nxg.0000000000200037