Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Bernhard Kayser"'
Autor:
Rebecca Bornstein, Katerina James, Julia Stokes, Kyung Yeon Park, Ernst-Bernhard Kayser, John Snell, Angela Bard, Yihan Chen, Franck Kalume, Simon C. Johnson
Publikováno v:
Neurobiology of Disease, Vol 163, Iss , Pp 105594- (2022)
Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological disease. Leigh syndrome is the most common clinical presentation of pediatric mitochondrial dis
Externí odkaz:
https://doaj.org/article/24a74f13f1394ae6aa92f6a8f0869eee
Autor:
Allison R Hanaford, Asheema Khanna, Katerina James, Yihan Chen, Michael Mulholland, Bernhard Kayser, Vivian Truong, Margaret Sedensky, Phil Morgan, Vandana Kalia, Nathan Baerchst, Surojit Sarkar, Simon C Johnson
Subacute necrotizing encephalopathy, or Leigh syndrome (LS), is the most common paediatric presentation of genetic mitochondrial disease. LS is a multi-system disorder with severe neurologic, metabolic, and musculoskeletal symptoms. The presence of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2605f8a2e68efa1e4d3edadc622be15d
https://doi.org/10.1101/2023.01.27.525842
https://doi.org/10.1101/2023.01.27.525842
Autor:
Jonathon L. Burman, Leslie S. Itsara, Ernst-Bernhard Kayser, Wichit Suthammarak, Adrienne M. Wang, Matt Kaeberlein, Margaret M. Sedensky, Philip G. Morgan, Leo J. Pallanck
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 10, Pp 1165-1174 (2014)
Mutations affecting mitochondrial complex I, a multi-subunit assembly that couples electron transfer to proton pumping, are the most frequent cause of heritable mitochondrial diseases. However, the mechanisms by which complex I dysfunction results in
Externí odkaz:
https://doaj.org/article/c740b63f6a234240b974a741f333415a
Autor:
Alessandro Bitto, Anthony S. Grillo, Ian B. Stanaway, Bao M. G. Nguyen, Kejun Ying, Herman Tung, Kaleb Smith, Ngoc Tran, Gunnar Velikanje, Silvan R. Urfer, Jessica M. Snyder, Ernst-Bernhard Kayser, Lu Wang, Daniel L. Smith, J. Will Thompson, Laura DuBois, William DePaolo, Matt Kaeberlein
SummaryMitochondrial diseases represent a spectrum of disorders caused by impaired mitochondrial function ranging in severity from mortality during infancy to progressive adult-onset disease. Mitochondrial dysfunction is also recognized as a molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::817c65e0d1ddc61c6ca25fd0f2f3062a
https://doi.org/10.1101/2022.01.31.478591
https://doi.org/10.1101/2022.01.31.478591
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0148219 (2016)
Lack of NDUFS4, a subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), causes Leigh syndrome (LS), a progressive encephalomyopathy. Knocking out Ndufs4, either systemically or in brain only, elicits LS in mice. In patients as well as
Externí odkaz:
https://doaj.org/article/4aa7be90d82f4bdd95a7a398a1a7e36f
Autor:
Sangwook Jung, Pavel I. Zimin, Christian B. Woods, Ernst-Bernhard Kayser, Dominik Haddad, Colleen R. Reczek, Ken Nakamura, Jan-Marino Ramirez, Margaret M. Sedensky, Philip G. Morgan
Publikováno v:
Current biology : CB. 32(14)
The mechanisms of volatile anesthetic action remain among the most perplexing mysteries of medicine. Across phylogeny, volatile anesthetics selectively inhibit mitochondrial complex I, and they also depress presynaptic excitatory signaling. To explor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c86263aff6603b64b14e70585da160ab
https://pubmed.ncbi.nlm.nih.gov/35882199
https://pubmed.ncbi.nlm.nih.gov/35882199
Autor:
Simon C. Johnson, Philip G. Morgan, Daniel Raftery, Margaret M. Sedensky, Amanda Pan, Grace X Sun, Matt Kaeberlein, Alessandro Bitto, Rebecca Bornstein, Julia Stokes, Ernst-Bernhard Kayser, Kyung Yeon Park
Publikováno v:
Mol Genet Metab
Leigh Syndrome (LS) is a mitochondrial disorder defined by progressive focal neurodegenerative lesions in specific regions of the brain. Defects in NDUFS4, a subunit of complex I of the mitochondrial electron transport chain, cause LS in humans; the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f7fac5ad246b4f76f6295fe373e05f
https://pubmed.ncbi.nlm.nih.gov/32331968
https://pubmed.ncbi.nlm.nih.gov/32331968
Autor:
Phil G. Morgan, Jan-Marino Ramirez, Margaret M. Sedensky, Pavel I. Zimin, Ernst-Bernhard Kayser, Christian B. Woods
Publikováno v:
British Journal of Anaesthesia. 120:1019-1032
Background The mechanisms of action of volatile anaesthetics are unclear. Volatile anaesthetics selectively inhibit complex I in the mitochondrial respiratory chain. Mice in which the mitochondrial complex I subunit NDUFS4 is knocked out [Ndufs4(KO)]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd05a9ebcd6674aa9aa656f2f4fef98c
https://doi.org/10.1016/j.bja.2018.01.036
https://doi.org/10.1016/j.bja.2018.01.036
Autor:
Margaret M. Sedensky, Wichit Suthammarak, Jonathon L. Burman, Leslie S. Itsara, Ernst Bernhard Kayser, Matt Kaeberlein, Adrienne M. Wang, Philip G. Morgan, Leo J. Pallanck
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 10, Pp 1165-1174 (2014)
Disease Models & Mechanisms
Disease Models & Mechanisms
Mutations affecting mitochondrial complex I, a multi-subunit assembly that couples electron transfer to proton pumping, are the most frequent cause of heritable mitochondrial diseases. However, the mechanisms by which complex I dysfunction results in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16fdfa331e68d9522f88e2382ea9e3ef
http://dmm.biologists.org/content/7/10/1165
http://dmm.biologists.org/content/7/10/1165
Autor:
Matt Kaeberlein, Alessandro Bitto, Margaret M. Sedensky, Daniel L. Smith, Philip G. Morgan, Kejun Ying, Herman Tung, Ernst-Bernhard Kayser
Publikováno v:
Innovation in Aging
Mitochondrial disease describes multiple pathologies characterized by a wide array of disease symptoms and severity, caused by mitochondrial dysfunction in one or multiple organs. Aging organisms display a similar variety of disease phenotypes, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3a4854855507f8b04971f9cff1e9df
http://europepmc.org/articles/PMC6840059
http://europepmc.org/articles/PMC6840059