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PXD021386-1

PXD021386 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleComplexome profiling of mitochondrial protein complexes from patients with mutations in either DNAJC30 or ACAD9 compared to an age and gender matched control
DescriptionWe identified the chaperone DNAJC30 as an important factor to maintain NADH:ubiquinone oxidoreductase (complex I) activity. To determine whether DNAJC30 acts as a complex I assembly factor, we used complexome profiling to compare the molecular consequences of DNAJC30 mutations in contrast to defects in the complex I assembly factor ACAD9.
HostingRepositoryPRIDE
AnnounceDate2021-09-09
AnnouncementXMLSubmission_2021-09-09_07:54:35.455.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterIlka Wittig
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListiodoacetamide derivatized residue
InstrumentQ Exactive
Dataset History
RevisionDatetimeStatusChangeLog Entry
02020-09-09 22:48:37ID requested
12021-09-09 07:54:36announced
Publication List
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H, Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest, 131(6):(2021) [pubmed]
Keyword List
submitter keyword: LC-MSMS, complexome profiling, oxidative phosphorylation system, complex I maintenance, complex I assembly
Contact List
Holger Prokisch
contact affiliationResearch Group Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, München, Germany
contact emailprokisch@helmholtz-muenchen.de
lab head
Ilka Wittig
contact affiliationFunctional Proteomics, Goethe University, Frankfurt am Main , Germany
contact emailwittig@med.uni-frankfurt.de
dataset submitter
Full Dataset Link List
Dataset FTP location
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