Proteomics

Dataset Information

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Mitochondrial protein complexes from a patient with mutations in DNAJC30 compared to an age and gender matched healthy control

ABSTRACT: We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). To determine the consequence of mutations in DNAJC30 on the assembly of complex I we utilized complexome profiling.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Fibroblast

SUBMITTER: Ilka Wittig  

LAB HEAD: Holger Prokisch

PROVIDER: PXD021500 | Pride | 2021-09-09

REPOSITORIES: Pride

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Publications

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Stenton Sarah L SL   Sheremet Natalia L NL   Catarino Claudia B CB   Andreeva Natalia A NA   Assouline Zahra Z   Barboni Piero P   Barel Ortal O   Berutti Riccardo R   Bychkov Igor I   Caporali Leonardo L   Capristo Mariantonietta M   Carbonelli Michele M   Cascavilla Maria L ML   Charbel Issa Peter P   Freisinger Peter P   Gerber Sylvie S   Ghezzi Daniele D   Graf Elisabeth E   Heidler Juliana J   Hempel Maja M   Heon Elise E   Itkis Yulya S YS   Javasky Elisheva E   Kaplan Josseline J   Kopajtich Robert R   Kornblum Cornelia C   Kovacs-Nagy Reka R   Krylova Tatiana D TD   Kunz Wolfram S WS   La Morgia Chiara C   Lamperti Costanza C   Ludwig Christina C   Malacarne Pedro F PF   Maresca Alessandra A   Mayr Johannes A JA   Meisterknecht Jana J   Nevinitsyna Tatiana A TA   Palombo Flavia F   Pode-Shakked Ben B   Shmelkova Maria S MS   Strom Tim M TM   Tagliavini Francesca F   Tzadok Michal M   van der Ven Amelie T AT   Vignal-Clermont Catherine C   Wagner Matias M   Zakharova Ekaterina Y EY   Zhorzholadze Nino V NV   Rozet Jean-Michel JM   Carelli Valerio V   Tsygankova Polina G PG   Klopstock Thomas T   Wittig Ilka I   Prokisch Holger H  

The Journal of clinical investigation 20210301 6

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majority of which are accounted for by 3 mutations within mitochondrial complex I subunit-encoding genes in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the absence of pathogenic mtDNA mutations. We describe biallelic mutations in a nuclear  ...[more]

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