PXD021500-1

PXD021500 is an original dataset announced via ProteomeXchange.

Title	Mitochondrial protein complexes from a patient with mutations in DNAJC30 compared to an age and gender matched healthy control
Description	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.
HostingRepository	PRIDE
AnnounceDate	2021-09-09
AnnouncementXML	Submission_2021-09-09_09:30:30.527.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ilka Wittig
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2020-09-15 22:33:47	ID requested
⏵ 1	2021-09-09 09:30:31	announced

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]

submitter keyword: LC-MSMS, complexome profiling, oxidative phosphorylation system, complex I maintenance, complex I assembly

Holger Prokisch
contact affiliation	Research Group Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, München, Germany
contact email	prokisch@helmholtz-muenchen.de
lab head
Ilka Wittig
contact affiliation	Functional Proteomics, Goethe University, Frankfurt am Main , Germany
contact email	wittig@med.uni-frankfurt.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2021/09/PXD021500

PRIDE project URI

• PRIDE
  1. PXD021500
     1. Label: PRIDE project
     2. Name: Mitochondrial protein complexes from a patient with mutations in DNAJC30 compared to an age and gender matched healthy control