دورية أكاديمية
أعرض في EDS

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

التفاصيل البيبلوغرافية
العنوان: Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
المؤلفون: Alami NH; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Smith RB; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Carrasco MA; Department of Biochemistry and Molecular Biophysics, Columbia University Medical Center, New York, NY 10032, USA., Williams LA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138., Winborn CS; Department of Ophthalmology, University of Tennessee Health Sciences Center, Memphis, TN 38163, USA., Han SSW; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138.; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Kiskinis E; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138., Winborn B; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Freibaum BD; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Kanagaraj A; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Clare AJ; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Badders NM; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Bilican B; Euan MacDonald Centre for Motor Neurone Disease Research, Medical Research Council Centre for Regenerative Medicine, Centre for Neuroregeneration, University of Edinburgh, Edinburgh EH16 4SB, UK., Chaum E; Department of Ophthalmology, University of Tennessee Health Sciences Center, Memphis, TN 38163, USA., Chandran S; Euan MacDonald Centre for Motor Neurone Disease Research, Medical Research Council Centre for Regenerative Medicine, Centre for Neuroregeneration, University of Edinburgh, Edinburgh EH16 4SB, UK., Shaw CE; Departments of Clinical Neuroscience and Neurodegeneration and Brain Injury, King's College London and King's Health Partners, MRC Centre for Neurodegeneration Research, London SE5 8AF, UK., Eggan KC; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138., Maniatis T; Department of Biochemistry and Molecular Biophysics, Columbia University Medical Center, New York, NY 10032, USA., Taylor JP; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
المصدر: Neuron [Neuron] 2014 Feb 05; Vol. 81 (3), pp. 536-543.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Cambridge, Mass. : Cell Press, c1988-
مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*pathology , Axonal Transport/*genetics , DNA-Binding Proteins/*genetics , Motor Neurons/*metabolism , Mutation/*genetics , RNA, Messenger/*metabolism, Amyotrophic Lateral Sclerosis/genetics ; Animals ; Animals, Genetically Modified ; Cells, Cultured ; Cerebral Cortex/cytology ; Drosophila ; Drosophila Proteins/genetics ; Humans ; Kruppel-Like Factor 4 ; Kruppel-Like Transcription Factors/genetics ; Kruppel-Like Transcription Factors/metabolism ; Luminescent Proteins/genetics ; Mice ; Mitochondria/metabolism ; Motor Neurons/ultrastructure ; Octamer Transcription Factor-3/genetics ; Octamer Transcription Factor-3/metabolism ; RNA-Binding Proteins/metabolism ; SOXB1 Transcription Factors/genetics ; SOXB1 Transcription Factors/metabolism
مستخلص: The RNA-binding protein TDP-43 regulates RNA metabolism at multiple levels, including transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the cytoplasmic inclusions characteristic of amyotrophic lateral sclerosis and some types of frontotemporal lobar degeneration. The importance of TDP-43 in disease is underscored by the fact that dominant missense mutations are sufficient to cause disease, although the role of TDP-43 in pathogenesis is unknown. Here we show that TDP-43 forms cytoplasmic mRNP granules that undergo bidirectional, microtubule-dependent transport in neurons in vitro and in vivo and facilitate delivery of target mRNA to distal neuronal compartments. TDP-43 mutations impair this mRNA transport function in vivo and in vitro, including in stem cell-derived motor neurons from ALS patients bearing any one of three different TDP-43 ALS-causing mutations. Thus, TDP-43 mutations that cause ALS lead to partial loss of a novel cytoplasmic function of TDP-43.
(Copyright © 2014 Elsevier Inc. All rights reserved.)
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معلومات مُعتمدة: NS053825 United States NS NINDS NIH HHS; 089701 United Kingdom WT_ Wellcome Trust; DP1 NS082099 United States NS NINDS NIH HHS; P30 CA021765-34 United States CA NCI NIH HHS; AG031587 United States AG NIA NIH HHS; R01 NS053825 United States NS NINDS NIH HHS; CHANDRAN/MAR10/982-797 United Kingdom MNDA_ Motor Neurone Disease Association; P30 CA021765 United States CA NCI NIH HHS; R01 AG031587 United States AG NIA NIH HHS; 8DP1NS082099 United States DP NCCDPHP CDC HHS
المشرفين على المادة: 0 (DNA-Binding Proteins)
0 (Drosophila Proteins)
0 (Kruppel-Like Factor 4)
0 (Kruppel-Like Transcription Factors)
0 (Luminescent Proteins)
0 (Octamer Transcription Factor-3)
0 (POU5F1 protein, human)
0 (RNA, Messenger)
0 (RNA-Binding Proteins)
0 (SOX2 protein, human)
0 (SOXB1 Transcription Factors)
0 (Stau1 protein, mouse)
تواريخ الأحداث: Date Created: 20140211 Date Completed: 20140404 Latest Revision: 20240320
رمز التحديث: 20240320
مُعرف محوري في PubMed: PMC3939050
DOI: 10.1016/j.neuron.2013.12.018
PMID: 24507191
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-4199
DOI:10.1016/j.neuron.2013.12.018