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Year Number of Results
1992 1
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2009 1
2010 1
2011 6
2012 6
2013 1
2015 1
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2022 1
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19 results

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Page 1
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH. van de Wal MAE, et al. Brain. 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. Brain. 2022. PMID: 34849584 Free PMC article. Review.
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pathologies and rare mitochondrial diseases. With respect to the latter, mutations in subunit-encoding genes and assembly factors of th …
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pa …
Mitochondrial complex I deficiency and cardiovascular diseases: current evidence and future directions.
Forte M, Palmerio S, Bianchi F, Volpe M, Rubattu S. Forte M, et al. J Mol Med (Berl). 2019 May;97(5):579-591. doi: 10.1007/s00109-019-01771-3. Epub 2019 Mar 12. J Mol Med (Berl). 2019. PMID: 30863992 Review.
Compelling evidence demonstrates the emerging role of mitochondrial complex I deficiency in the onset and development of cardiovascular diseases (CVDs). ...Moreover, data obtained in humans revealed that genes coding for complex I proteins were associa …
Compelling evidence demonstrates the emerging role of mitochondrial complex I deficiency in the onset and development o …
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
Roestenberg P, Manjeri GR, Valsecchi F, Smeitink JA, Willems PH, Koopman WJ. Roestenberg P, et al. Mitochondrion. 2012 Jan;12(1):57-65. doi: 10.1016/j.mito.2011.06.011. Epub 2011 Jul 2. Mitochondrion. 2012. PMID: 21757032 Review.
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). ...Here we summarize the current knowledge concerning the consequences of nDNA-encoded CI mutations in patient-derived cells, present mouse models for hum …
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). ...Here we sum …
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
Breuer ME, Willems PH, Smeitink JA, Koopman WJ, Nooteboom M. Breuer ME, et al. IUBMB Life. 2013 Mar;65(3):202-8. doi: 10.1002/iub.1127. Epub 2013 Feb 3. IUBMB Life. 2013. PMID: 23378164 Free article. Review.
The development and evaluation of these strategies require suitable model systems. In humans, inherited complex I (CI) deficiency is one of the most common deficiencies of the mitochondrial oxidative phosphorylation system. ...In this review, we discuss these …
The development and evaluation of these strategies require suitable model systems. In humans, inherited complex I (CI) deficiency …
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Pagniez-Mammeri H, Rak M, Legrand A, Bénit P, Rustin P, Slama A. Pagniez-Mammeri H, et al. Mol Genet Metab. 2012 Feb;105(2):173-9. doi: 10.1016/j.ymgme.2011.10.001. Epub 2011 Oct 20. Mol Genet Metab. 2012. PMID: 22099533 Review.
Complex I deficiency is the most frequent cause of respiratory chain diseases. This large multiprotein complex is composed in human of 45 structural subunits, of which 7 are mitochondrial-encoded and 38 are nuclear-encoded. ...
Complex I deficiency is the most frequent cause of respiratory chain diseases. This large multiprotein complex is compo …
Therapeutic applications of the TAT-mediated protein transduction system for complex I deficiency and other mitochondrial diseases.
Lin BY, Kao MC. Lin BY, et al. Ann N Y Acad Sci. 2015 Sep;1350:17-28. doi: 10.1111/nyas.12858. Epub 2015 Aug 14. Ann N Y Acad Sci. 2015. PMID: 26273800 Review.
Complex I deficiency is associated with many severe mitochondrial diseases, including Leber hereditary optic neuropathy and Leigh syndrome. ...The available evidence suggests that the TAT-mediated protein transduction system holds great promise as a potential …
Complex I deficiency is associated with many severe mitochondrial diseases, including Leber hereditary optic neuropathy …
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S. Fassone E, et al. J Med Genet. 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. J Med Genet. 2012. PMID: 22972949 Review.
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic hetero …
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of c …
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA. Distelmaier F, et al. Brain. 2009 Apr;132(Pt 4):833-42. doi: 10.1093/brain/awp058. Epub 2009 Mar 31. Brain. 2009. PMID: 19336460 Review.
This crucial task is executed by five multi-protein complexes of which mitochondrial NADH:ubiquinone oxidoreductase or complex I is the largest and most complicated one. ...In extensive live cell studies with patient-derived skin fibroblasts we uncovered important c …
This crucial task is executed by five multi-protein complexes of which mitochondrial NADH:ubiquinone oxidoreductase or complex …
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Review.
BACKGROUND: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorder. ...The seco …
BACKGROUND: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I defic …
Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
Pagniez-Mammeri H, Loublier S, Legrand A, Bénit P, Rustin P, Slama A. Pagniez-Mammeri H, et al. Mol Genet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188. Epub 2011 Nov 18. Mol Genet Metab. 2012. PMID: 22142868 Review.
Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial genome. Its deficiency is the most frequently encountered in mitochondrial …
Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly enco …
19 results