A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
08 Mar 2023
Historique:
received: 02 02 2023
revised: 03 03 2023
accepted: 06 03 2023
medline: 30 3 2023
entrez: 29 3 2023
pubmed: 30 3 2023
Statut: epublish

Résumé

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease caused by pathogenic variations in the

Identifiants

pubmed: 36982290
pii: ijms24065215
doi: 10.3390/ijms24065215
pmc: PMC10049465
pii:
doi:

Substances chimiques

Antibodies 0
Biomarkers 0
Dystrophin 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Parent Project Onlus
ID : N. 44/ 2019
Organisme : NIHR Great Ormond Street Hospital BRC
ID : N. 20NM06

Références

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Auteurs

Rachele Rossi (R)

The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.

Camilla Johansson (C)

Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.

Wendy Heywood (W)

Translational Mass Spectrometry Research Group, Genetics & Genomic Medicine Department, UCL Institute of Child Health, London WC1N 1EH, UK.

Heloise Vinette (H)

Translational Mass Spectrometry Research Group, Genetics & Genomic Medicine Department, UCL Institute of Child Health, London WC1N 1EH, UK.

Gabriella Jensen (G)

Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.

Hanna Tegel (H)

Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.

Albert Jiménez-Requena (A)

Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.

Silvia Torelli (S)

The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.

Cristina Al-Khalili Szigyarto (C)

Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.
Science for Life Laboratory, Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden.

Alessandra Ferlini (A)

The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.

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Classifications MeSH