Proteomics

Dataset Information

0

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

Json Xml

Dataset's files

Source:
Action DRS
Data_ANALYSIS_3rdvariant_12h_.xlsx Xlsx
P20_054_127242_12h_01.raw Raw
P20_054_127242_12h_02.raw Raw
P20_054_127242_12h_03.raw Raw
P20_054_127242_12h_04.raw Raw
Items per page:
1 - 5 of 99
altmetric image

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]

Similar Datasets

Proteomics Complexome profiling of mitochondrial protein complexes from patients with mutations in either DNAJC30 or ACAD9 compared to an age and gender matched control
2021-09-09 | PXD021386 | Pride
Proteomics Complexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations in HEK cells
2021-09-09 | PXD022340 | Pride
Proteomics Complexome profiling of mitochondrial protein complexes to study assembly of complex III and supercomplex stability in patients with defects in UQCRH gene
2021-09-20 | PXD022856 | Pride
Proteomics Complexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations
2021-09-09 | PXD021385 | Pride
Proteomics Mitochondrial protein complexes from a patient with mutations in DNAJC30 compared to an age and gender matched healthy control
2021-09-09 | PXD021500 | Pride
Proteomics Complexome profiling to study assembly of complex III in heart tissue from UQCRH deficient mice
2021-09-20 | PXD022855 | Pride
Proteomics Complexome profiling of brain mitochondria from WT and ClpP-/- mice
2024-01-17 | PXD036901 | Pride
Proteomics Complexome profiling of testis tissue in WT and ClpP-/- mice
2024-01-17 | PXD035352 | Pride
Proteomics Complexome profiling of heart mitochondria from WT and ClpP-/- mice
2024-01-17 | PXD036933 | Pride
Proteomics Complexome profiling of mitochondrial protein complexes from pig heart to study the molecular consequences of hyperbaric oxygen treatment
2024-06-22 | PXD035554 | Pride