Proteomics

Dataset Information

0

Proteomic characterization of the molecular signature of congenital myopathies

ABSTRACT: Congenital myopathies (CMs) are progressive diseases that constitute a diverse group of hereditary neuromuscular disorders that have been studied due to their diagnostic and therapeutic complexity. Due to the great clinical and molecular heterogeneity of CMs, this set of diseases constantly challenges healthcare teams and researchers pushing the multidisciplinary teams to better characterize biomarkers for more efficient diagnostic, enrichment of clinical trials design and therapeutic strategies. In this work we propose to characterize the molecular signature of nemaline, central core, multiminicore and fiber type disproportion myopathies as well as Duchenne and Becker dystrophy using a label free Mass Spectrometry NANOLC-MS/MS proteomic approach.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skeletal Muscle

DISEASE(S): Becker Muscular Dystrophy,Duchenne Muscular Dystrophy

SUBMITTER: Proteomics Unit  

LAB HEAD: Fábio César Sousa Nogueira

PROVIDER: PXD050694 | Pride | 2025-05-06

REPOSITORIES: Pride

Json Xml

Dataset's files

Source:
Action DRS
KATIA_DENISE.msf Msf
QE_011919_KATIA_13_1.raw Raw
QE_011920_KATIA_13_2.raw Raw
QE_011922_KATIA_9_1.raw Raw
QE_011923_KATIA_9_2.raw Raw
Items per page:
1 - 5 of 44
altmetric image

Publications

Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.

da Silva Juliana Cristina Tobar JCT   Nogueira Mariângela Rangel Alves MRA   da Silva Yara Martins YM   Nogueira Fábio César Sousa FCS   Canedo Nathalie Henriques Silva NHS   Carneiro Katia K   de Abreu Pereira Denise D  

Scientific reports 20250126 1

Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life. In this study, skeletal mu  ...[more]

Similar Datasets

Proteomics Proteomics of Duchenne Muscular Dystrophy Patient iPSC - Derived Skeletal Muscle Cells Reveal Differential Expression of Myosin 9, Collagen 18A, Tropomyosin 1, NCAM1, BASP1 and RUVBL1
2025-11-17 | PXD068000 | Pride
Proteomics Proteomic analysis of vastus lateralis muscle biopsies
2023-03-11 | PXD037792 | Pride
Proteomics The Pathogenic Impact of Cryptic Splicing is Alleviated by Ubiquitination and ER-Phagy
2024-09-26 | PXD041509 | Pride
Proteomics Principles of isoform-specific targeted protein degradation engaging the C-degron E3 KLHDC2
2025-01-18 | PXD051581 | Pride
Proteomics Scilifelab-AffinityProteomics-BIONMD-384plex.Antibody.Bead.Array_BurcuAyoglu
2014-05-10 | E-MTAB-2564 | biostudies-arrayexpress
Proteomics Prenatal low-dose MeHg exposure leads to proteomic and transcriptomic alterations consistent with neurodegenerative disease in the cerebellum of C57BL/6 mice
2026-02-06 | PXD068503 | Pride
Proteomics The mRNA-binding proteome of proliferating and differentiated muscle cells
2020-06-09 | PXD015471 | Pride
Transcriptomics Muscle from patients with mitochondrial myopathies and congenital muscular dystrophies versus normal human muscle
2015-01-20 | E-GEOD-43698 | biostudies-arrayexpress
Genomics
| PRJNA1154435 | ENA
Proteomics Persistent inflammatory stimulation drives the transition of MSCs to inflammatory CAFs that promote pro-metastatic characteristics in breast cancer cells
2021-08-10 | PXD022635 | Pride