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2009 2
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2012 3
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Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I. van der Ven AT, et al. Mol Genet Metab. 2023 Nov;140(3):107675. doi: 10.1016/j.ymgme.2023.107675. Epub 2023 Aug 4. Mol Genet Metab. 2023. PMID: 37572574
Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). ...Here we discuss our patient in context of genotype, phenotype and metabolite data from previously reported NDUFAF3 cases. With the atypical presentation of ou …
Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). ...Here we discuss our patie …
NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.
Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, Sasaki M, Mimaki M, Goto YI, Nishino I. Ishiyama A, et al. Clin Genet. 2018 May;93(5):1103-1106. doi: 10.1111/cge.13215. Epub 2018 Feb 11. Clin Genet. 2018. PMID: 29344937
Whole exome sequencing identified compound heterozygous variations in NDUFAF3, involved in the assembly of mitochondrial complex I (c.342_343insGTG:p.117Valdup, c.505C > A:p.Pro169Thr). ...Our report expands the spectrum of clinical phenotypes associated with pathogenic …
Whole exome sequencing identified compound heterozygous variations in NDUFAF3, involved in the assembly of mitochondrial complex I (c …
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG. Baertling F, et al. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 27986404
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. ...Furthermore, we present an analysis of complex I assembly routes representative of each functional module and, thereby, link NDUFAF3 to a specific step in complex I assembly. Therefore, o …
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. ...Furthermore, we present an analysis of complex I assem …
Dissecting the concordant and disparate roles of NDUFAF3 and NDUFAF4 in mitochondrial complex I biogenesis.
Murari A, Rhooms SK, Garcia C, Liu T, Li H, Mishra B, Deshong C, Owusu-Ansah E. Murari A, et al. iScience. 2021 Jul 16;24(8):102869. doi: 10.1016/j.isci.2021.102869. eCollection 2021 Aug 20. iScience. 2021. PMID: 34386730 Free PMC article.
Here, using genetic analyses in Drosophila, we report that when either of the CIAFs - NDUFAF3 or NDUFAF4 - is disrupted, biogenesis of the Q-, N-, and P(P-b)-modules of CI is impaired. ...Notably, forced expression of NDUFAF4 rescues the biogenesis defects in the Q-module …
Here, using genetic analyses in Drosophila, we report that when either of the CIAFs - NDUFAF3 or NDUFAF4 - is disrupted, biogenesis o …
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.
We found that NDUFAF3 is a genuine mitochondrial complex I assembly protein that interacts with complex I subunits. Furthermore, we show that NDUFAF3 tightly interacts with NDUFAF4 (C6ORF66), a protein previously implicated in complex I deficiency. ...
We found that NDUFAF3 is a genuine mitochondrial complex I assembly protein that interacts with complex I subunits. Furthermore, we s …
In vivo chlorophyll fluorescence screening allows the isolation of a Chlamydomonas mutant defective for NDUFAF3, an assembly factor involved in mitochondrial complex I assembly.
Massoz S, Hanikenne M, Bailleul B, Coosemans N, Radoux M, Miranda-Astudillo H, Cardol P, Larosa V, Remacle C. Massoz S, et al. Plant J. 2017 Nov;92(4):584-595. doi: 10.1111/tpj.13677. Epub 2017 Sep 28. Plant J. 2017. PMID: 28857403 Free article.
One of the mutants was tagged and whole genome sequencing identified the resistance cassette in NDUFAF3, a homolog of the human NDUFAF3 gene, encoding for an assembly factor involved in complex I assembly. ...
One of the mutants was tagged and whole genome sequencing identified the resistance cassette in NDUFAF3, a homolog of the human ND …
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
Zurita Rendón O, Shoubridge EA. Zurita Rendón O, et al. Hum Mol Genet. 2012 Sep 1;21(17):3815-24. doi: 10.1093/hmg/dds209. Epub 2012 May 31. Hum Mol Genet. 2012. PMID: 22653752 Free PMC article.
At least 10 factors necessary for holoenzyme assembly have been identified; however, the specific roles of most of them are not well understood. We investigated the role of NDUFAF3, NDUFAF4, C8orf38 and C20orf7, four early assembly factors, in the translation of the mtDNA- …
At least 10 factors necessary for holoenzyme assembly have been identified; however, the specific roles of most of them are not well underst …
Complex I and II are required for normal mitochondrial Ca2+ homeostasis.
Jaña F, Bustos G, Rivas J, Cruz P, Urra F, Basualto-Alarcón C, Sagredo E, Ríos M, Lovy A, Dong Z, Cerda O, Madesh M, Cárdenas C. Jaña F, et al. Mitochondrion. 2019 Nov;49:73-82. doi: 10.1016/j.mito.2019.07.004. Epub 2019 Jul 13. Mitochondrion. 2019. PMID: 31310854 Free PMC article.
Is has been assumed that as long as mutations that affect the ETC do not affect the deltapsim, the mitochondrial Ca(2+) ((m)Ca(2+)) homeostasis remains normal. We show that knockdown of NDUFAF3 and SDHB reduce ETC activity altering (m)Ca(2+) efflux and influx rates while d …
Is has been assumed that as long as mutations that affect the ETC do not affect the deltapsim, the mitochondrial Ca(2+) ((m)Ca(2+)) homeosta …
Label‑free quantitative proteomics and bioinformatics analyses of alcoholic liver disease in a chronic and binge mouse model.
Zhang Y, Zhan C, Chen G, Sun J. Zhang Y, et al. Mol Med Rep. 2018 Aug;18(2):2079-2087. doi: 10.3892/mmr.2018.9225. Epub 2018 Jun 26. Mol Med Rep. 2018. PMID: 29956796 Free PMC article.
The expression of several core proteins including thyroid hormone receptor interactor 12 (TRIP12), NADH dehydrogenase (ubiquinone)1 alpha subcomplex, assembly factor 3 (NDUFAF3) and guanine monophosphate synthetase (GMPS) was validated by reverse transcription-quantitative …
The expression of several core proteins including thyroid hormone receptor interactor 12 (TRIP12), NADH dehydrogenase (ubiquinone)1 alpha su …
20 results