| Property | Value |
|---|
| Working Groups |  AG Wittig |
| Subproject | Z02 |
| Open Access |  Yes |
| Publication Type | Journal Article |
| PMID |  33465056 |
| DOI |  10.1172/jci138267 |
| Publication Year | 2021 |
| Title | Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy |
| Journal | J Clin Invest |
| ISSN | 0021-9738 |
| URL | http://dx.doi.org/10.1172/jci138267 |
| Issue | 6 |
| Volume | 131 |
| Authors | 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 J, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H |
| First Author | Stenton SL |
| Last Author | Prokisch H |
External Resources
0000-0003-2379-6286https://orcid.org/0000-0003-2379-6286
ORCID of corresponding author
doi.org/10.1172/JCI138267DS1https://doi.org/10.1172/JCI138267DS1
Link to supplementary data
PXD021385http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD021385
Complexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations
PXD021386http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD021386
Complexome profiling of mitochondrial protein complexes from patients with mutations in either DNAJC30 or ACAD9
PXD021500http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD021500
Complexome profiling of Mitochondrial protein complexes from a patient with mutations in DNAJC30
PXD022340http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD022340
Complexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations in HEK cells
PXD022339http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD022339
Quantification of mitochondrial complexes in DNAJC30 deficient HEK cells
PXD021548http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD021548
Protein turnover rates within mitochondrial complexes in mitochondrial disease patients and in a DNAJC30 knock-out cell line
PXD021499http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD021499
Dynamic complexome profiling identifies impaired turnover of specific complex I subunits in a patient with mutations in DNAJC30
dm5migu4...9.xlsxhttps://dm5migu4zj3pb.cloudfront.net/manuscripts/138000/138267/JCI138267.sdt1-19.xlsx
Link to supplementary tables
