Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Jan A M, Smeitink"'
Autor:
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mut
Externí odkaz:
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d
Publikováno v:
Frontiers in Toxicology, Vol 4 (2022)
Fourteen to 26 percent of all hospitalized cases of acute kidney injury are explained by drug-induced toxicity, emphasizing the importance of proper strategies to pre-clinically assess renal toxicity. The MTT assay is widely used as a measure of cell
Externí odkaz:
https://doaj.org/article/ccdecf3852684e1fbe255f1219a61346
Autor:
Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink, Christianne M. Verhaak
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and duration of the diagno
Externí odkaz:
https://doaj.org/article/f4b30aa16e6a41bb8597d4e8ed9e6614
Autor:
Charlotte A. Hoogstraten, Maaike M. E. Jacobs, Guido de Boer, Melissa A. E. van de Wal, Werner J. H. Koopman, Jan A. M. Smeitink, Frans G. M. Russel, Tom J. J. Schirris
Publikováno v:
Archives of Toxicology, 97, 1927-1941
Archives of Toxicology, 97, 7, pp. 1927-1941
Archives of Toxicology, 97, 7, pp. 1927-1941
Mitochondrial dysfunction is pivotal in drug-induced acute kidney injury (AKI), but the underlying mechanisms remain largely unknown. Transport proteins embedded in the mitochondrial inner membrane form a significant class of potential drug off-targe
Autor:
Lisanne M. P. E. van Oppen, Loai K. E. A. Abdelmohsen, Sjenet E. van Emst-de Vries, Pascal L. W. Welzen, Daniela A. Wilson, Jan A. M. Smeitink, Werner J. H. Koopman, Roland Brock, Peter H. G. M. Willems, David S. Williams, Jan C.M. van Hest
Publikováno v:
ACS Central Science, Vol 4, Iss 7, Pp 917-928 (2018)
Externí odkaz:
https://doaj.org/article/2277ffd6f92a4412b7d22285f7c0bf54
Autor:
Eligio F. Iannetti, Alessandro Prigione, Jan A. M. Smeitink, Werner J. H. Koopman, Julien Beyrath, Herma Renkema
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Mitochondria are best known as the powerhouses of the cells but their cellular role goes far beyond energy production; among others, they have a pivotal function in cellular calcium and redox homeostasis. Mitochondrial dysfunction is often associated
Externí odkaz:
https://doaj.org/article/e3e1a2d5e52b46e49283da5133ae443a
Autor:
Sarah Foriel, G. Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J. Rodenburg, Jan A. M. Smeitink, Julien Beyrath, Annette Schenck
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Mitochondrial diseases are a group of rare life-threatening diseases often caused by defects in the oxidative phosphorylation system. No effective treatment is available for these disorders. Therapeutic development is hampered by the high heterogenei
Externí odkaz:
https://doaj.org/article/60958f63847340fabe3853636624f7a5
Autor:
Sarah Foriel, Julien Beyrath, Ilse Eidhof, Richard J. Rodenburg, Annette Schenck, Jan A. M. Smeitink
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 3 (2018)
Mitochondrial diseases are associated with a wide variety of clinical symptoms and variable degrees of severity. Patients with such diseases generally have a poor prognosis and often an early fatal disease outcome. With an incidence of 1 in 5000 live
Externí odkaz:
https://doaj.org/article/74ef7c04027e4f51804037e4c976c94f
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
This chapter describes gene mutations and disorders linked to mitochondrial homeostasis, dynamics, protein import, and quality control. Although clinically highly variable, we here functionally categorized these mutations as impacting on mitochondria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf329026a1e997905ff81af4241711b
https://doi.org/10.1007/978-3-030-67727-5_46
https://doi.org/10.1007/978-3-030-67727-5_46
Autor:
Inge‐Lot Klein, Christianne M. Verhaak, Jan A. M. Smeitink, Paul de Laat, Mirian C. H. Janssen, José A. E. Custers
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 6, pp. 1130-1142
Journal of Inherited Metabolic Disease, 45, 1130-1142
Journal of Inherited Metabolic Disease, 45, 1130-1142
Contains fulltext : 286871.pdf (Publisher’s version ) (Open Access) Severe fatigue is a common complaint in patients with primary mitochondrial disease. However, less is known about the course of fatigue over time. This longitudinal observational c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f7ac32f8cefc257081658790bc2761
https://repository.ubn.ru.nl/handle/2066/286871
https://repository.ubn.ru.nl/handle/2066/286871