ArticleMolecules (Basel, Switzerland)2024
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.
Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni
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In one paragraphArticle in Molecules (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
10 authors.
Cristina ManisDepartment of Life and Environmental Sciences, Cittadella Universitaria di Monserrato, Blocco A, Room 13, 09042 Monserrato, Italy.
Mattia CasulaDepartment of Life and Environmental Sciences, Cittadella Universitaria di Monserrato, Blocco A, Room 13, 09042 Monserrato, Italy.ORCID 0000-0003-4300-3327 Andreas RoosDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.ORCID 0000-0003-2833-0928 Matthias VorgerdDepartment of Neurology, BG-University Hospital Bergmannsheil gGmbH, Ruhr-University Bochum, 44789 Bochum, Germany.
Oksana PogoryelovaDirectorate of Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK.
Alexa DerksenChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Sally SpendiffChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0001-9579-3514 Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Pierluigi CaboniDepartment of Life and Environmental Sciences, Cittadella Universitaria di Monserrato, Blocco A, Room 13, 09042 Monserrato, Italy.ORCID 0000-0003-2448-3767 Funding
European Commission Grant # 101080249
6 · The paper itselfAbstract
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-
Indexed as
LipidomicsAdultBiomarkersFemaleHumansLipidsMaleMass SpectrometryMiddle AgedMultienzyme ComplexesMyositis, Inclusion BodyBiomarkersLipidsMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinasecarnitinesceramidesGNEM biomarkersGNE myopathyHIBMlysophosphocholinesNonaka myopathy
Identifiers
PMID39519852
PMCPMC11547195
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