Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans

Mitochondrion ◽  
2012 ◽  
Vol 12 (3) ◽  
pp. 399-405 ◽  
Author(s):  
Daniela van den Ecker ◽  
Mariël A. van den Brand ◽  
Gerke Ariaans ◽  
Michael Hoffmann ◽  
Olaf Bossinger ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
C Elegans ◽  
Assembly Factor ◽  
Complex I Assembly

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

2017 ◽  
Vol 120 (3) ◽  
pp. 243-246 ◽  
Author(s):  
Fabian Baertling ◽  
Laura Sánchez-Caballero ◽  
Sharita Timal ◽  
Mariël AM van den Brand ◽  
Lock Hock Ngu ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Assembly Factor ◽  
Complex I Assembly

scholarly journals Tissue specific requirements for ECSIT in mitochondrial complex I assembly

2021 ◽  
Author(s):  
Thomas L Nicol ◽  
Sara Falcone ◽  
Andrew Blease ◽  
Pratik Vikhe ◽  
Gabriele Civiletto ◽  
...  
Keyword(s):  
Complex I ◽  
Cardiac Tissue ◽  
Heart Tissue ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Tissue Specific ◽  
Assembly Factor ◽  
Liver And Kidney ◽  
The Individual ◽  
Complex I Assembly

AbstractHere we describe a mutation in the mitochondrial complex I assembly factor (Evolutionarily conserved signalling intermediate in Toll pathway) ECSIT which reveals tissue specific requirements for this factor in complex I assembly. Mitochondrial complex I assembly is a multi-step process dependant on assembly factors that organise and arrange the individual subunits, allowing for their incorporation into the complete enzyme complex. We have identified an ENU induced mutation in ECSIT (N209I) that exhibits a profound effect on complex I assembly only in heart tissue resulting in hypertrophic cardiomyopathy in the absence of other phenotypes. Mitochondrial function was reduced by 98% in mitochondria isolated from cardiac tissue but mitochondria from other tissues such as skeletal muscle, brain, liver, and kidney were unaffected. This data suggests the mechanisms underlying complex I assembly are tissue specific and has implications in understanding the pathogenesis of cardiomyopathy.

scholarly journals Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

2019 ◽  
Vol 126 (3) ◽  
pp. 250-258 ◽  
Author(s):  
Heidy Baide-Mairena ◽  
Paula Gaudó ◽  
Laura Marti-Sánchez ◽  
Sonia Emperador ◽  
Angel Sánchez-Montanez ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Assembly Factor ◽  
Complex I Assembly ◽  
Striatal Necrosis

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

2011 ◽  
Vol 48 (10) ◽  
pp. 691-697 ◽  
Author(s):  
E. Fassone ◽  
J.-W. Taanman ◽  
I. P. Hargreaves ◽  
N. J. Sebire ◽  
M. A. Cleary ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Assembly Factor ◽  
Complex I Assembly

Identification of a novel mitochondrial complex I assembly factor ACDH-12 in Caenorhabditis elegans

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 91-96 ◽  
Author(s):  
Sirithip Chuaijit ◽  
Worawit Boonyatistan ◽  
Pichsinee Boonchuay ◽  
Chanatip Metheetrairut ◽  
Wichit Suthammarak
Keyword(s):  
Caenorhabditis Elegans ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Assembly Factor ◽  
Complex I Assembly

Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia

2018 ◽  
Vol 75 (16) ◽  
pp. 3051-3067 ◽  
Author(s):  
Dominik C. Fuhrmann ◽  
Ilka Wittig ◽  
Stefan Dröse ◽  
Tobias Schmid ◽  
Nathalie Dehne ◽  
...  
Keyword(s):  
Complex I ◽  
Chronic Hypoxia ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Assembly Factor ◽  
Complex I Assembly
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