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

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

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

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

2017 ◽  
Vol 93 (1) ◽  
pp. 111-118 ◽  
Author(s):  
F. Baertling ◽  
L. Sánchez-Caballero ◽  
M.A.M. van den Brand ◽  
C.-W. Fung ◽  
S.H.-S. Chan ◽  
...  
Keyword(s):  
Complex I ◽  
Point Mutations ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Assembly ◽  
Assembly Defect

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

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9 ‐deficient mild myopathy

2017 ◽  
Vol 55 (6) ◽  
pp. 919-922 ◽  
Author(s):  
Konstantina Fragaki ◽  
Annabelle Chaussenot ◽  
Audrey Boutron ◽  
Sylvie Bannwarth ◽  
Charlotte Cochaud ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Dna Deletions ◽  
Complex I Assembly

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
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