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Adipose Mitochondrial Complex I Deficiency Modulates Inflammation and Glucose Homeostasis in a Sex-Dependent Manner.

Endocrinology 163:6529386 (2022)
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Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

J Med Genet 49:277-83 (2012)
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Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rotig A

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Mol Genet Metab 92:104-8 (2007)
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Zanette V, Valle DD, Telles BA, Robinson AJ, Monteiro V, Santos MLSF, Souza RLR, Beninca C

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.

Genet Mol Biol 44:e20210149 (2021)
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Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

Am J Hum Genet 68:1344-52 (2001)
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Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Brain 133:2952-63 (2010)
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Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.

Hum Mutat 21:582-6 (2003)
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Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

J Med Genet 41:14-7 (2004)
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Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

J Clin Invest 114:837-45 (2004)
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Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Mol Genet Metab 94:78-82 (2008)
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