PXD039533

PXD039533 is an original dataset announced via ProteomeXchange.

Title	Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52
Description	Duchenne muscular dystrophy (DMD) is a fatal X-linked disease caused by mutations in the dystrophin (DMD) gene, leading to the complete absence of DMD and progressive degeneration of skeletal and heart muscles. Expression of an internally shortened dystrophin in DMD subjects (DMDΔ52) can be achieved by skipping DMD exon 51 to reframe the transcript. To predict the best possible outcome of this therapeutic strategy, we generated transgenic pigs lacking DMD exon 51 and 52, additionally representing a new model for Becker muscular dystrophy (BMD). To inspect the proteome alterations caused by the different dystrophin mutations in an unbiased and comprehensive manner, we performed a label-free liquid chromatography-tandem mass spectrometry analysis (LC-MS/MS) of myocardial and skeletal muscle samples from wild-type (WT), DMDΔ52 and DMDΔ51-52 pigs.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_05:53:28.679.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Bachuki Shashikadze
SpeciesList	scientific name: Sus scrofa domesticus (domestic pig); NCBI TaxID: 9825;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive HF-X

Revision	Datetime	Status	ChangeLog Entry
0	2023-01-18 06:47:52	ID requested
1	2023-07-11 05:08:34	announced
2	2023-11-14 09:02:15	announced	2023-11-14: Updated project metadata.
⏵ 3	2024-10-22 05:53:29	announced	2024-10-22: Updated project metadata.

Stirm M, Shashikadze B, Blutke A, Kemter E, Lange A, St, ö, ckl JB, Jaudas F, Laane L, Kurome M, Ke, ß, ler B, Zakhartchenko V, B, ä, hr A, Klymiuk N, Nagashima H, Walter MC, Wurst W, Kupatt C, Fr, ö, hlich T, Wolf E, exon 52. Proc Natl Acad Sci U S A, 120(29):e2301250120(2023) [pubmed]

10.1073/pnas.2301250120;

submitter keyword: Becker muscular dystrophy,Proteomics, Duchenne muscular dystrophy, pig model

Thomas Fröhlich
contact affiliation	Laboratory for Functional Genome Analysis, Gene Center, LMU Munich, 81377 Munich, Germany
contact email	frohlich@genzentrum.lmu.de
lab head
Bachuki Shashikadze
contact affiliation	Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, 81377 Munich, Germany
contact email	shashikadze@genzentrum.lmu.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD039533
     1. Label: PRIDE project
     2. Name: Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52