Christer Thomsen

P174 Subtyping of cardiac amyloidosis by mass spectrometry of endomyocardial biopsies

Anders Oldfors, Fredrik Noborn, Christer Thomsen, Egor Vorontsov et autres

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Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial biopsies

Fredrik Noborn, Christer Thomsen, Egor Vorontsov, Emanuele Bobbio et autres

Background Cardiac amyloidosis is a severe condition leading to restrictive cardiomyopathy and heart failure. Mass spectrometry-based methods for cardiac amyloid subtyping have become important diagnostic tools but are currently used only in a few reference laboratories. Such methods include laser-capture microdissection to …

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Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion

Carola Hedberg‐Oldfors, Ulrika Lindgren, Kittichate Visuttijai, Daniel Lööf et autres

AIMS: Patients with dermatomyositis (DM) suffer from reduced aerobic metabolism contributing to impaired muscle function, which has been linked to cytochrome c oxidase (COX) deficiency in muscle tissue. This mitochondrial respiratory chain dysfunction is typically seen in perifascicular regions, which also show …

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Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency

Christer Thomsen, Edoardo Malfatti, Ana Jovanović, Mark Roberts et autres

AIMS: Several neurodegenerative and neuromuscular disorders are characterised by storage of polyglucosan, consisting of proteins and amylopectin-like polysaccharides, which are less branched than in normal glycogen. Such diseases include Lafora disease, branching enzyme deficiency, glycogenin-1 deficiency, polyglucosan body myopathy type 1 (PGBM1) …

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251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

Pascal Laforêt, Anders Oldfors, Marie-Anne Colle, Jordi Durán et autres

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COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

Carola Hedberg‐Oldfors, Niklas Darín, Christer Thomsen, Christopher Lindberg et autres

Objective To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. Methods The patient was clinically investigated at 3, 5, 9, and 25 years of …

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Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass Spectrometry

Emanuele Bobbio, Entela Bollano, S. Esmaily, Christer Thomsen et autres

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Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Kittichate Visuttijai, Carola Hedberg‐Oldfors, Christer Thomsen, Emma Glamuzina et autres

Context Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with …

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Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Kittichate Visuttijai, Carola Hedberg‐Oldfors, Christer Thomsen, Emma Glamuzina et autres

CONTEXT: Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with …

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P.54Defects in iron-sulphur cluster assembly proteins ISCU and FDX2 cause characteristic mitochondrial myopathy

Christer Thomsen, Juliana Gurgel‐Giannetti, Y. Sunnerhagen, Anthony M. Giannetti et autres

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Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency

Kalliopi Sofou, Carola Hedberg‐Oldfors, Gittan Kollberg, Christer Thomsen et autres

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FET family fusion oncoproteins target the SWI/SNF chromatin remodeling complex

Malin Lindén, Christer Thomsen, Pernilla Grundevik, Emma Jonasson et autres

Members of the human FET family of RNA-binding proteins, comprising FUS, EWSR1, and TAF15, are ubiquitously expressed and engage at several levels of gene regulation. Many sarcomas and leukemias are characterized by the expression of fusion oncogenes with FET genes as 5' …

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