Proteomics

Dataset Information

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Dynamic complexome profiling identifies impaired turnover of specific complex I subunits in a patient with mutations in DNAJC30.

ABSTRACT: We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). To determine the turnover rates of modules in complex I, we pulsed patient and control fibroblast cell lines over 12 hours with heavy amino acids (PulseSILAC) followed by dynamic complexome profiling.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Fibroblast

SUBMITTER: Ilka Wittig  

LAB HEAD: Holger Prokisch

PROVIDER: PXD021499 | 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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