Dataset Information

Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene

ABSTRACT: NDUFC2 is a subunit of the membrane part of NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling to study the role of NDUFC2 in complex I stability and assembly.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skin, Fibroblast

SUBMITTER: Ilka Wittig

LAB HEAD: Robert Taylor

PROVIDER: PXD014936 | Pride | 2020-08-10

REPOSITORIES: Pride

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Publications

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Alahmad Ahmad A Nasca Alessia A Heidler Juliana J Thompson Kyle K Oláhová Monika M Legati Andrea A Lamantea Eleonora E Meisterknecht Jana J Spagnolo Manuela M He Langping L Alameer Seham S Hakami Fahad F Almehdar Abeer A Ardissone Anna A Alston Charlotte L CL McFarland Robert R Wittig Ilka I Ghezzi Daniele D Taylor Robert W RW

EMBO molecular medicine 20200924 11

Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two u ...[more]

PMID: 32969598

Dataset Information

Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene

Publications

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

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