Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1999 2
2005 1
2008 2
2009 2
2010 1
2011 2
2012 5
2013 1
2014 1
2015 3
2016 1
2018 3
2019 2
2020 2
2021 1
2022 4
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Results by year

Filters applied: . Clear all
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.
This syndrome is an early-onset, often fatal, encephalopathy with a variable clinical presentation and poor prognosis due to the lack of effective intervention strategies. Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit …
This syndrome is an early-onset, often fatal, encephalopathy with a variable clinical presentation and poor prognosis due to the lack …
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS, Lee NC, Sung CJ, Liu YW, Weng WC, Fan PC, Lee WT, Chien YH, Wu CS, Sung YF, Tsai MC, Lee YC, Hsueh HW, Fan SM, Wu MC, Li H, Chen HY, Lin HI, Ou-Yang CH, Hwuh WL, Lin CH. Chen PS, et al. Mov Disord. 2023 Dec;38(12):2217-2229. doi: 10.1002/mds.29604. Epub 2023 Sep 27. Mov Disord. 2023. PMID: 37752895
Compared with other groups, patients with late-onset homozygous p.Met279Arg were older at onset (P = 0.008), had less developmental delay (P = 0.01), less hyponatremia (P = 0.01), and better prognosis with preserved ambulatory function into early adulthood (P = 0.01). ...C …
Compared with other groups, patients with late-onset homozygous p.Met279Arg were older at onset (P = 0.008), had less developmental delay (P …
NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S, Väyrynen H, Helisalmi S, Kytövuori L, Luukkainen L, Hiltunen M, Remes AM, Krüger J. Huttula S, et al. Neurobiol Aging. 2022 Jun;114:113-116. doi: 10.1016/j.neurobiolaging.2021.09.026. Epub 2022 Jan 21. Neurobiol Aging. 2022. PMID: 35131137 Free article.
Next-generation sequencing panel was used to screen NDUFA1 variants in a cohort of 37 EOD patients with a family history of dementia or an atypical or rapidly progressive course of disease. We identified a hemizygous p.Gly32Arg variant in two brothers with AD. ...
Next-generation sequencing panel was used to screen NDUFA1 variants in a cohort of 37 EOD patients with a family history of dementia or an a …
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families. Both presented with a progressive course of disease with encephalo(cardio)myopathic features including muscul …
Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individ …
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X. Tang X, et al. Genes Genomics. 2022 Jun;44(6):691-698. doi: 10.1007/s13258-022-01260-x. Epub 2022 Apr 28. Genes Genomics. 2022. PMID: 35482246
In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous prediction tools. CONCLUSION: This research expands the mutation spectrum of NDUFV1 and substantially provides an early and accurate diagnosis …
In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous predic …
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA. Koene S, et al. J Inherit Metab Dis. 2012 Sep;35(5):737-47. doi: 10.1007/s10545-012-9492-z. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644603 Free PMC article. Review.
Complex I deficiency caused by a nuclear gene defect is usually a non-dysmorphic syndrome, characterized by severe multi-system organ involvement and a poor prognosis. Age at presentation may vary, but is generally within the first year of life. ...No clear genotype-phenot …
Complex I deficiency caused by a nuclear gene defect is usually a non-dysmorphic syndrome, characterized by severe multi-system organ involv …
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M. Danhelovska T, et al. BMC Pediatr. 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. BMC Pediatr. 2020. PMID: 31996177 Free PMC article.
BACKGROUND: Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND …
BACKGROUND: Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitoc …
Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice.
Schirris TJJ, Rossell S, de Haas R, Frambach SJCM, Hoogstraten CA, Renkema GH, Beyrath JD, Willems PHGM, Huynen MA, Smeitink JAM, Russel FGM, Notebaart RA. Schirris TJJ, et al. Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166062. doi: 10.1016/j.bbadis.2020.166062. Epub 2021 Jan 13. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33385517 Free article.
Here, we present a comprehensive human metabolic network model of genetically characterized CI-deficient patient-derived fibroblasts. Model calculations predicted that increased cholesterol production, export, and utilization can counterbalance the surplus of reducing equi …
Here, we present a comprehensive human metabolic network model of genetically characterized CI-deficient patient-derived fibroblasts. Model …
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Srivastava A, et al. Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5. Eur J Hum Genet. 2018. PMID: 29976978 Free PMC article.
Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating …
Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) va …
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
Zhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y. Zhou X, et al. J Hum Genet. 2023 Apr;68(4):239-246. doi: 10.1038/s10038-022-01102-4. Epub 2022 Dec 8. J Hum Genet. 2023. PMID: 36482121 Free PMC article.
Here, we identified a novel intronic mutation (c.82-2 A > G) and a novel exonic insertion mutation (c.290dupT) in TMEM126B from a Chinese patient with clinical manifestations of LLS. In silico predictions, minigene splicing assays and patients' RNA analyses determined t …
Here, we identified a novel intronic mutation (c.82-2 A > G) and a novel exonic insertion mutation (c.290dupT) in TMEM126B from a Chinese …
29 results