Dataset Information

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

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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]

PMID: 39865125

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	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