Search: WFRF:(‘t Hoen Peter A. C.)
> (2012-2014) >
Affinity proteomics...
Affinity proteomics within rare diseases : a BIO-NMD study for blood biomarkers of muscular dystrophies
-
- Ayoglu, Burcu (author)
- KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab
-
Chaouch, Amina (author)
-
Lochmüller, Hanns (author)
-
show more...
-
Politano, Luisa (author)
-
Bertini, Enrico (author)
-
Spitali, Pietro (author)
-
Hiller, Monika (author)
-
Niks, Eric H. (author)
-
Gualandi, Francesca (author)
-
- Pontén, Fredrik (author)
- Uppsala universitet,Molekylär och morfologisk patologi,Science for Life Laboratory, SciLifeLab
-
Bushby, Kate (author)
-
Aartsma-Rus, Annemieke (author)
-
Schwartz, Elena (author)
-
Le Priol, Yannick (author)
-
Straub, Volker (author)
-
- Uhlén, Mathias (author)
- KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab
-
Cirak, Sebahattin (author)
-
't Hoen, Peter A. C. (author)
-
Muntoni, Francesco (author)
-
Ferlini, Alessandra (author)
-
- Schwenk, Jochen M. (author)
- KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab
-
- Nilsson, Peter (author)
- KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab
-
Szigyarto, Cristina Al-Khalili (author)
-
show less...
-
(creator_code:org_t)
- 2014-06-11
- 2014
- English.
-
In: EMBO Molecular Medicine. - : EMBO. - 1757-4676 .- 1757-4684. ; 6:7, s. 918-936
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
show less...
Abstract
Subject headings
Close
- Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the BIO-NMD consortium from four geographically dispersed clinical sites to identify protein markers associated with muscular dystrophy using an antibody bead array platform with 384 antibodies. Based on concordance in statistical significance and confirmatory results obtained from analysis of both serum and plasma, we identified eleven proteins associated with muscular dystrophy, among which four proteins were elevated in blood from muscular dystrophy patients: carbonic anhydrase III (CA3) and myosin light chain 3 (MYL3), both specifically expressed in slow-twitch muscle fibers and mitochondrial malate dehydrogenase 2 (MDH2) and electron transfer flavo-protein A (ETFA). Using age-matched sub-cohorts, 9 protein profiles correlating with disease progression and severity were identified, which hold promise for the development of new clinical tools for management of dystrophinopathies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- antibody-based proteomics
- disease severity biomarkers
- Duchenne muscular dystrophy
- plasma profilling
- protein profiling
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Ayoglu, Burcu
-
Chaouch, Amina
-
Lochmüller, Hann ...
-
Politano, Luisa
-
Bertini, Enrico
-
Spitali, Pietro
-
show more...
-
Hiller, Monika
-
Niks, Eric H.
-
Gualandi, France ...
-
Pontén, Fredrik
-
Bushby, Kate
-
Aartsma-Rus, Ann ...
-
Schwartz, Elena
-
Le Priol, Yannic ...
-
Straub, Volker
-
Uhlén, Mathias
-
Cirak, Sebahatti ...
-
't Hoen, Peter A ...
-
Muntoni, Frances ...
-
Ferlini, Alessan ...
-
Schwenk, Jochen ...
-
Nilsson, Peter
-
Szigyarto, Crist ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Medical Biotechn ...
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Immunology in th ...
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
EMBO Molecular M ...
- By the university
-
Royal Institute of Technology
-
Uppsala University