Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3
| العنوان: | Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3 |
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| المؤلفون: | Andrew J. Kornberg, Nigel F. Clarke, Paul Kennedy, Leigh B. Waddell, Nicole Monnier, Michaela Kreissl, Kathryn N. North, Annick Labarre-Vila, Catriona McLean |
| المساهمون: | Institute for Neuroscience and Muscle Research, Westmead Hospital [Sydney], Discipline of Paediatrics and Child Health, The University of Sydney, Department of Neurology, Royal Children's Hospital, State Neuropathology Service, Department of Pathology, University of Melbourne, Department of Anatomical Pathology, The Alfred Hospital, Centre de Reference des Maladies Neuromusculaires, CHU Grenoble, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de biochimie et génétique moléculaire, This work has been supported by the NHMRC, Australia (N.C. - Grant 206529 and 571287, L.W. - Grant 505004 and K.N. - Grant 403941) and the MDA of New South Wales (N.C., K.N.)., Roux-Buisson, Nathalie |
| المصدر: | Neuromuscul Disord Neuromuscul Disord, 2010, 20 (7), pp.464-6. ⟨10.1016/j.nmd.2010.05.012⟩ |
| بيانات النشر: | Elsevier BV, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Male, Pathology, medicine.medical_specialty, MESH: Mutation, Adolescent, Dominant negative, MESH: Tropomyosin, Tropomyosin, Disease, Biology, Arginine, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Cap myopathy, Mutant protein, Dominant negative disease, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cysteine, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, MESH: Adolescent, MESH: Muscle, Skeletal, 0303 health sciences, MESH: Humans, Mechanism (biology), MESH: Child, Preschool, MESH: Arginine, MESH: Muscular Diseases, MESH: Cysteine, MESH: Male, 3. Good health, Congenital fibre-type disproportion, TPM3, Neurology, Child, Preschool, Causal association, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), 030217 neurology & neurosurgery |
| الوصف: | International audience; We report a third patient with typical cap myopathy due to a heterozygous TPM3 mutation, confirming the importance of this causal association. The p.R168C TPM3 mutation we identified has been reported in two previous patients. The histological changes associated with this mutation vary widely from typical cap myopathy with near complete type 1 predominance (two patients), to typical congenital fibre-type disproportion without protein inclusions (one patient). We performed 2D-gel electrophoresis using muscle biopsies from two patients with the p.R168C mutation and show that mutant protein accounts for around 50% of alpha-tropomyosin(slow) in sarcomeres, consistent with a dominant negative mechanism of disease pathogenesis. |
| وصف الملف: | application/pdf |
| تدمد: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2010.05.012 |
| DOI: | 10.1016/j.nmd.2010.05.012⟩ |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058e57b4ee8d73764976bfeff8580eb2 https://doi.org/10.1016/j.nmd.2010.05.012 |
| Rights: | EMBARGO |
| رقم الانضمام: | edsair.doi.dedup.....058e57b4ee8d73764976bfeff8580eb2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09608966 |
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| DOI: | 10.1016/j.nmd.2010.05.012 |