Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

2003 ◽  
Vol 54 (5) ◽  
pp. 665-669 ◽  
Author(s):  
Cristina Ugalde ◽  
Ralf H. Triepels ◽  
Marieke J.H. Coenen ◽  
Lambert P. Van Den Heuvel ◽  
Roel Smeets ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Complex I ◽  
Leigh Syndrome ◽  
Syndrome Patient ◽  
Complex I Assembly

P311 Defective Complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

2009 ◽  
Vol 13 ◽  
pp. S118
Author(s):  
I.F.M. de Coo ◽  
M. Gerards ◽  
W. Sluiter ◽  
B.J.C. van den Bosch ◽  
M. Frentzen ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
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 NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

2017 ◽  
Vol 25 (11) ◽  
pp. 1273-1277 ◽  
Author(s):  
Fabian Baertling ◽  
Laura Sánchez-Caballero ◽  
Mariël A M van den Brand ◽  
Liesbeth T Wintjes ◽  
Maaike Brink ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Assembly ◽  
Assembly Defect

scholarly journals Exogenous NAD+ prevents galactose-induced death of Leigh Syndrome patient fibroblasts with isolated complex I deficiency

2018 ◽  
Vol 1859 ◽  
pp. e28-e29
Author(s):  
Werner J.H. Koopman ◽  
Eligio F. Iannetti ◽  
Jan A.M. Smeitink ◽  
Peter H.G.M. Willems ◽  
Julien Beyrath
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Syndrome Patient ◽  
Complex I Deficiency

scholarly journals 123 Defective Complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Mitochondrion ◽  
2010 ◽  
Vol 10 (2) ◽  
pp. 234
Author(s):  
Irenaeus F.M. de Coo ◽  
Mike Gerards ◽  
Willem Sluiter ◽  
Bianca J.C. van den Bosch ◽  
Margrit Frentzen ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Complex I Assembly

scholarly journals Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

2009 ◽  
Vol 47 (8) ◽  
pp. 507-512 ◽  
Author(s):  
M. Gerards ◽  
W. Sluiter ◽  
B. J. C. van den Bosch ◽  
L. E. A. de Wit ◽  
C. M. H. Calis ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Complex I Assembly

scholarly journals Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

PLoS ONE ◽  
2014 ◽  
Vol 9 (8) ◽  
pp. e104879 ◽  
Author(s):  
David K. Miller ◽  
Minal J. Menezes ◽  
Cas Simons ◽  
Lisa G. Riley ◽  
Sandra T. Cooper ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Rapid Identification ◽  
Syndrome Patient ◽  
Novel Complex

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome

2007 ◽  
Vol 90 (1) ◽  
pp. 10-14 ◽  
Author(s):  
Cristina Ugalde ◽  
Reetta Hinttala ◽  
Sharita Timal ◽  
Roel Smeets ◽  
Richard J.T. Rodenburg ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Assembly

scholarly journals Succination of Dihydrolipoyllysine Succinyltransferase (DLST) Exacerbates Mitochondrial ATP Deficiency in a Mouse Model of Leigh Syndrome

2020 ◽  
Author(s):  
Gerardo G. Piroli ◽  
Allison M. Manuel ◽  
Holland H. Smith ◽  
Richard S. McCain ◽  
Michael D. Walla ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Tca Cycle ◽  
Tricarboxylic Acid ◽  
Neuronal Dysfunction ◽  
Complex I Deficiency ◽  
Protein Thiols ◽  
Substrate Level ◽  
Complex I Assembly ◽  
Human Complex

SummaryThe NDUFS4 knockout (KO) mouse phenotype resembles the human Complex I deficiency Leigh Syndrome. The irreversible succination of protein thiols by fumarate is increased in regions of the NDUFS4 KO brain affected by neurodegeneration, suggesting a mechanistic role in neurodegenerative decline. We report the identification of a novel succinated protein, dihydrolipoyllysine-residue succinyltransferase (DLST), a component of the α-ketoglutarate dehydrogenase complex (KGDHC) of the tricarboxylic acid (TCA) cycle. Succination of DLST reduced KGDHC activity in the brainstem (BS) and olfactory bulb (OB) of KO mice. We further observed decreased mitochondrial substrate level phosphorylation, a TCA cycle reaction dependent on KGDHC derived succinyl-CoA, further aggravating the OXPHOS ATP deficit. Protein succinylation, an acylation modification that requires succinyl-CoA, was reduced in the KO mice. Our data demonstrate that the biochemical deficit extends beyond the Complex I assembly and energy defect, and functionally impairs multiple mitochondrial parameters to accelerate neuronal dysfunction.

scholarly journals Assembly of the mitochondrial Complex I assembly complex suggests a regulatory role for deflavination

2020 ◽  
Author(s):  
Gabriele Giachin ◽  
Matthew Jessop ◽  
Romain Bouverot ◽  
Samira Acajjaoui ◽  
Melissa Saidi ◽  
...  
Keyword(s):  
Complex I ◽  
Regulatory Role ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Assembly
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