Zobrazeno 1 - 10 of 403 pro vyhledávání: '"Jan A. Smeitink"'
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Akademický článek
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Autor: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz: https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
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2
Akademický článek
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Autor: Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Publikováno v: Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)
Abstract Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cruci
Externí odkaz: https://doaj.org/article/8385714f30b847afbf46e0c0a43d9134
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3
Time to Change: A Systems Pharmacology Approach to Disentangle Mechanisms of Drug-Induced Mitochondrial Toxicity
Autor: Charlotte A. Hoogstraten, Jonathan J. Lyon, Jan A.M. Smeitink, Frans G.M. Russel, Tom J.J. Schirris
Publikováno v: Pharmacological Reviews, 75, 463-486
Pharmacological Reviews, 75, 3, pp. 463-486
Contains fulltext : 292356.pdf (Publisher’s version ) (Open Access) An increasing number of commonly prescribed drugs are known to interfere with mitochondrial function, which is associated with almost half of all Food and Drug Administration black
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac64c44746b5eee4dd15cba7968a76b
http://hdl.handle.net/2066/292356
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5
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Autor: Cheuk-Wing Fung, Anna Ka-Yee Kwong, Jan A.M. Smeitink, Sheila Suet-Na Wong, Godfrey Chi-Fung Chan, Richard J. Rodenburg
Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 15-22 (2021)
JIMD Reports
Jimd Reports, 60, 15-22
Jimd Reports, 60, 1, pp. 15-22
Contains fulltext : 237483.pdf (Publisher’s version ) (Open Access) BACKGROUND: d-lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d-lactate dehydrogenase.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12a0373638e4b6434bf65e8a114a7f9
https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b
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6
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes
Autor: Virginia Wong, Anna Ka-Yee Kwong, Cheuk-Wing Fung, Vanessa Loi-Yan Chu, Jan A.M. Smeitink, Saskia Koene, Sheila Suet-Na Wong
Publikováno v: Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)
Epilepsia Open
Epilepsia Open, 6, 685-693
Epilepsia Open, 6, 4, pp. 685-693
Contains fulltext : 241407.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Dravet syndrome (DS) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild-to-severe inte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e39996b061f24c2f163f5895ad350f
https://doi.org/10.1002/epi4.12534
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7
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts
Autor: Elianne P. Bulthuis, Claudia Einer, Felix Distelmaier, Laszlo Groh, Sjenet E. van Emst - de Vries, Els van de Westerlo, Melissa van de Wal, Jori Wagenaars, Richard J. Rodenburg, Jan A.M. Smeitink, Niels P. Riksen, Peter H.G.M. Willems, Merel J.W. Adjobo-Hermans, Hans Zischka, Werner J.H. Koopman
Publikováno v: Free Radical Biology and Medicine, 188, pp. 434-446
Free Radical Biology and Medicine 188 (2022)
Free Radical Biol. Med. 188, 434-446 (2022)
Free Radical Biology and Medicine, 188, 434-446
Attachment of cargo molecules to lipophilic triphenylphosphonium (TPP+) cations is a widely applied strategy for mitochondrial targeting. We previously demonstrated that the vitamin E-derived antioxidant Trolox increases the levels of active mitochon
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18dae1c924e2eac5b5e0ad826c47c289
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/253380
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8
The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury
Autor: Diane Bakker, Rianne Nederlof, Yang Xiao, Markus W. Hollmann, Herma Renkema, Hong Zhang, Nina C. Weber, Jan A.M. Smeitink, Karen Yim, Coert J. Zuurbier
Publikováno v: Cardiovascular drugs and therapy / sponsored by the International Society of Cardiovascular Pharmacotherapy, 35(4), 745-758. Kluwer Academic Publishers
Cardiovascular Drugs and Therapy, 35, 745-758
Cardiovascular Drugs and Therapy, 35, 4, pp. 745-758
Cardiovascular Drugs and Therapy
Purpose Sonlicromanol is a phase IIB clinical stage compound developed for treatment of mitochondrial diseases. Its active component, KH176m, functions as an antioxidant, directly scavenging reactive oxygen species (ROS), and redox activator, boostin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5201a443be81810fd7262df4508dc36c
https://pure.amc.nl/en/publications/the-redox-modulating-sonlicromanol-active-metabolite-kh176m-and-the-antioxidant-mpg-protect-against-shortduration-cardiac-ischemiareperfusion-injury(fee26a86-2ace-49a5-be77-f05a04a33349).html
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9
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV
Autor: Richard J. Rodenburg, Cheuk-Wing Fung, Jan A.M. Smeitink, Anna Ka-Yee Kwong, Vanessa Loi-Yan Chu
Publikováno v: Brain & Development, 41, 883-887
Brain & Development, 41, 10, pp. 883-887
Background ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. Methods We studied a family with a 13-year old Chinese boy and his two elder brothers presented with i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf77b0d27d1e08195fdc6916fea7d02
https://doi.org/10.1016/j.braindev.2019.07.003
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10
Octa-arginine boosts the penetration of elastin-like polypeptide nanoparticles in 3D cancer models
Autor: Peter H.G.M. Willems, Jan A.M. Smeitink, Lisanne M.P.E. van Oppen, Werner J.H. Koopman, Roland Brock, Jan Pille, Christiaan Stuut, Jan C. M. van Hest, Marleen H. M. E. van Stevendaal, Lisa N. van der Vorm
Publikováno v: European Journal of Pharmaceutics and Biopharmaceutics, 137, 175-184. Elsevier
European Journal of Pharmaceutics and Biopharmaceutics, 137, 175-184
European Journal of Pharmaceutics and Biopharmaceutics, 137, pp. 175-184
Contains fulltext : 202255.pdf (Publisher’s version ) (Closed access) Elastin-like polypeptide (ELP) nanoparticles are a versatile platform for targeted drug delivery. As for any type of nanocarrier system, an important challenge remains the abilit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ec659b23e53ea358814ef5bd873bba
https://research.tue.nl/en/publications/039cd208-e459-4ebd-969d-7299ebfec2f0
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