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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004178naa a2200493 4500
001oai:DiVA.org:kth-326053
003SwePub
008230425s2023 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3260532 URI
0247 a https://doi.org/10.3390/ijms240652152 DOI
040 a (SwePub)kth
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Rossi, Racheleu UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England.;Univ Ferrara, Dept Med Sci, Med Genet Unit, I-44121 Ferrara, Italy.4 aut
2451 0a A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma :b Implications in DMD Diagnosis and Clinical Monitoring
264 c 2023-03-08
264 1b MDPI AG,c 2023
338 a print2 rdacarrier
500 a QC 20230425
520 a Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease caused by pathogenic variations in the DMD gene. There is a need for robust DMD biomarkers for diagnostic screening and to aid therapy monitoring. Creatine kinase, to date, is the only routinely used blood biomarker for DMD, although it lacks specificity and does not correlate with disease severity. To fill this critical gap, we present here novel data about dystrophin protein fragments detected in human plasma by a suspension bead immunoassay using two validated anti-dystrophin-specific antibodies. Using both antibodies, a reduction of the dystrophin signal is detected in a small cohort of plasma samples from DMD patients when compared to healthy controls, female carriers, and other neuromuscular diseases. We also demonstrate the detection of dystrophin protein by an antibody-independent method using targeted liquid chromatography mass spectrometry. This last assay detects three different dystrophin peptides in all healthy individuals analysed and supports our finding that dystrophin protein is detectable in plasma. The results of our proof-of-concept study encourage further studies in larger sample cohorts to investigate the value of dystrophin protein as a low invasive blood biomarker for diagnostic screening and clinical monitoring of DMD.
650 7a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
653 a DMD
653 a dystrophin protein
653 a plasma assay
653 a immunoassay
653 a LC-MS
653 a MS
7001 a Johansson, Camillau KTH,Systembiologi4 aut0 (Swepub:kth)u1jemko2
7001 a Heywood, Wendyu UCL Inst Child Hlth, Genet & Genom Med Dept, Translat Mass Spectrometry Res Grp, London W N 1EH, England.4 aut
7001 a Vinette, Heloiseu UCL Inst Child Hlth, Genet & Genom Med Dept, Translat Mass Spectrometry Res Grp, London W N 1EH, England.4 aut
7001 a Jensen, Gabriellau KTH,Proteinvetenskap4 aut0 (Swepub:kth)u1056u6d
7001 a Tegel, Hannau KTH,Proteinvetenskap4 aut0 (Swepub:kth)u1nou8yx
7001 a Jimenez-Requena, Albertu KTH,Proteinvetenskap4 aut0 (Swepub:kth)u1ti38o6
7001 a Torelli, Silviau UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England.4 aut
7001 a Al-Khalili Szigyarto, Cristinau KTH,Proteinvetenskap,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:kth)u1c02mh9
7001 a Ferlini, Alessandrau UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England.;Univ Ferrara, Dept Med Sci, Med Genet Unit, I-44121 Ferrara, Italy.4 aut
7102 a UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England.;Univ Ferrara, Dept Med Sci, Med Genet Unit, I-44121 Ferrara, Italy.b Systembiologi4 org
7730 t International Journal of Molecular Sciencesd : MDPI AGg 24:6q 24:6x 1661-6596x 1422-0067
8564 u https://doi.org/10.3390/ijms24065215y Fulltext
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-326053
8564 8u https://doi.org/10.3390/ijms24065215

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