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Monitoring Biomarke...
Monitoring Biomarker Study in Becker Muscular Dystrophy using Data Independent Acquisition LC-MS/MS
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- Johansson, Camilla (författare)
- KTH,Systembiologi
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- Schrama, Esther (författare)
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
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- Kotol, David (författare)
- KTH,Systembiologi,Science for Life Laboratory, SciLifeLab
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- Hober, Andreas, 1992- (författare)
- KTH,Science for Life Laboratory, SciLifeLab,Systembiologi
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- Koeks, Zaïda (författare)
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
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- van de Velde, Nienke (författare)
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
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- Verschuuren, Jan J.G.M. (författare)
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
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- Uhlén, Mathias (författare)
- KTH,Science for Life Laboratory, SciLifeLab,Albanova VinnExcellence Center for Protein Technology, ProNova,Systembiologi
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- Niks, Erik H. (författare)
- Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
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- Edfors, Fredrik (författare)
- KTH,Science for Life Laboratory, SciLifeLab,Systembiologi
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- Spitali, Pietro (författare)
- Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
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- Al-Khalili Szigyarto, Cristina (författare)
- KTH,Proteinvetenskap
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(creator_code:org_t)
- Engelska.
- Relaterad länk:
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https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- Becker muscular dystrophy (BMD) is a rare and heterogenous form of dystrophinopathy caused by reduced expression of altered dystrophin protein. Gene therapies and exon-skipping therapies for the more severe form of dystrophinopathy, Duchenne muscular dystrophy (DMD), assumes that by promoting partial dystrophin expression in DMD patients, their disease progression could be reduced. Several studies have identified potential progression biomarkers for DMD and hypothesised in their usefulness in monitoring pharmacodynamic response in gene-therapy clinical trials. However, knowledge of progression changes of blood proteome in BMD is lacking. In this study, we aimed at exploring differences in proteomic changes between DMD and BMD in a prospective longitudinal 4-year study as well as explore what proteins relate to functional performance in BMD patients. Serum from 48 BMD patients and 19 DMD patients were analysed using Data Independent Acquisition Tandem Mass Spectrometry (DIA-MS). Linear mixed effects models identified 17 proteins with altered longitudinal signatures between DMD and BMD, among these CKM, PKM and ALDOA. Furthermore, bikunin (product of AMBP gene), C3 and IGHG2 were found related to functional performance in BMD patients.
Ämnesord
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
Nyckelord
- Becker muscular dystrophy
- progression biomarkers
- DIA
- SRM
- Duchenne muscular dystrophy
- proteome
- Biotechnology
- Bioteknologi
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Johansson, Camil ...
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Schrama, Esther
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Kotol, David
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Hober, Andreas, ...
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Koeks, Zaïda
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van de Velde, Ni ...
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visa fler...
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Verschuuren, Jan ...
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Uhlén, Mathias
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Niks, Erik H.
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Edfors, Fredrik
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Spitali, Pietro
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Al-Khalili Szigy ...
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visa färre...
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- NATURVETENSKAP
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