دورية أكاديمية
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
| العنوان: | ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. |
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| المؤلفون: | Villar-Quiles, Rocío Nur, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie C.A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma Beatriz, Beggs, Alan A.H., Servais, Lara, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana |
| المصدر: | Annals of neurology, 87 (2 |
| سنة النشر: | 2020 |
| المجموعة: | DI-fusion : dépôt institutionnel de l'Université libre de Bruxelles (ULB) |
| مصطلحات موضوعية: | Sciences bio-médicales et agricoles, Adult, Amino Acid Transport System y+ -- metabolism -- physiology, Cell Cycle -- physiology, Cells, Cultured, Child, Preschool, Female, Fibroblasts -- physiology, Humans, Infant, Male, Middle Aged, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Muscular Diseases -- genetics -- physiopathology, Mutation, Pedigree, Phenotype, Transcription Factors -- genetics |
| الوصف: | Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. ; info:eu-repo/semantics/published |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 1 full-text file(s): application/pdf |
| اللغة: | English |
| ردمك: | 978-85-07-71476-7 85-07-71476-5 |
| العلاقة: | uri/info:doi/10.1002/ana.25660; uri/info:pmid/31794073; uri/info:scp/85077147655; uri/info:pmcid/PMC6980348; https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test |
| الإتاحة: | http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest |
| رقم الانضمام: | edsbas.FFBF66F4 |
| قاعدة البيانات: | BASE |
| ردمك: | 9788507714767 8507714765 |
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