دورية أكاديمية
Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.
| العنوان: | Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons. |
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| المؤلفون: | Maurel C; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France., Madji-Hounoum B; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France., Thepault RA; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France., Marouillat S; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France., Brulard C; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France., Danel-Brunaud V; b Service de neurologie et Pathologie du Mouvement , Centre Hospitalier Universitaire de Lille, Faculté de Médicine, Université de Lille , Lille , France.; c INSERM U1171 , Centre Hospitalier Universitaire de Lille, Faculté de médecine, Université de Lille , Lille , France., Camdessanche JP; d Service de Neurologie , Centre Hospitalier Universitaire de Saint-Etienne , Saint-Etienne , France., Blasco H; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France.; e Service de Biochimie et de Biologie Moléculaire , CHRU de Tours , Tours , France , and., Corcia P; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France.; f Service de Neurologie , CHRU de Tours , Tours , France., Andres CR; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France.; e Service de Biochimie et de Biologie Moléculaire , CHRU de Tours , Tours , France , and., Vourc'h P; a UMR INSERM U930 , Université François-Rabelais de Tours , Tours , France.; e Service de Biochimie et de Biologie Moléculaire , CHRU de Tours , Tours , France , and. |
| المصدر: | Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2018 Feb; Vol. 19 (1-2), pp. 149-151. Date of Electronic Publication: 2017 Jul 13. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2015- : Abingdon, Oxford : Taylor & Francis Original Publication: Colchester, Essex : Informa Healthcare |
| مواضيع طبية MeSH: | Mutation, Missense*, Amyotrophic Lateral Sclerosis/*genetics , DNA-Binding Proteins/*genetics , Motor Neurons/*metabolism, Amyotrophic Lateral Sclerosis/diagnosis ; Cells, Cultured ; Disease Progression ; Fatal Outcome ; Humans ; Inclusion Bodies/metabolism ; Male ; Middle Aged ; Ubiquitin/metabolism |
| مستخلص: | Mutations in the TAR-DNA Binding Protein-43 (TDP-43) encoding the TARDBP gene are present in amyotrophic lateral sclerosis (ALS). TDP-43 is the major component of ubiquitin-positive inclusions in motor neurons in ALS patients. We report here a novel heterozygous missense mutation in TARDBP in an ALS patient presenting a rapid form of ALS. This mutation p.N259S is located within the RNA recognition motif 2 (RRM2) in very close proximity with nucleotides in RNA. It is the first time a mutation was reported in this RRM2 domain of TDP-43. Expression of TDP-43 N259S in neuronal cells NSC-34 and in primary cultures of motor neurons was associated with cytoplasmic TDP-43/ubiquitin positive inclusions. Our findings identified for the first time a mutation in ALS in the RRM2 domain of TDP-43, reinforcing the link between this RNA-binding protein, perturbations in RNA metabolism, disruption in protein homeostasis and ALS. |
| فهرسة مساهمة: | Keywords: ALS; TDP-43; aggregates; ubiquitin |
| المشرفين على المادة: | 0 (DNA-Binding Proteins) 0 (TARDBP protein, human) 0 (Ubiquitin) |
| تواريخ الأحداث: | Date Created: 20170715 Date Completed: 20180906 Latest Revision: 20201109 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1080/21678421.2017.1349152 |
| PMID: | 28705014 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 2167-9223 |
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| DOI: | 10.1080/21678421.2017.1349152 |