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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1993 1
2009 1
2010 1
2011 6
2012 6
2013 1
2015 1
2016 1
2017 1
2019 1
2020 1
2021 2
2022 1
2023 1
2024 0

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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.
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients. ...
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'm …
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). ...In this review, we discuss recent experimental studies that underline the contributory role of …
Compelling evidence demonstrates the emerging role of mitochondrial complex I deficiency in the onset and develo …
Involvement of Mitochondria in Parkinson's Disease.
Choong CJ, Mochizuki H. Choong CJ, et al. Int J Mol Sci. 2023 Dec 1;24(23):17027. doi: 10.3390/ijms242317027. Int J Mol Sci. 2023. PMID: 38069350 Free PMC article. Review.
Mitochondrial dysregulation, such as mitochondrial complex I deficiency, increased oxidative stress, perturbation of mitochondrial dynamics and mitophagy, has long been implicated in the pathogenesis of PD. ...
Mitochondrial dysregulation, such as mitochondrial complex I deficiency, increased oxidative stress, perturbatio …
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. ...
BACKGROUND: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I …
20 results