دورية أكاديمية
Rab-dependent cellular trafficking and amyotrophic lateral sclerosis.
| العنوان: | Rab-dependent cellular trafficking and amyotrophic lateral sclerosis. |
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| المؤلفون: | Parakh S; a Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Centre for MND Research , Macquarie University , Sydney , Australia.; b Department of Biochemistry and Genetics , La Trobe Institute for Molecular Science, La Trobe University , Melbourne , Australia., Perri ER; a Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Centre for MND Research , Macquarie University , Sydney , Australia.; b Department of Biochemistry and Genetics , La Trobe Institute for Molecular Science, La Trobe University , Melbourne , Australia., Jagaraj CJ; a Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Centre for MND Research , Macquarie University , Sydney , Australia., Ragagnin AMG; a Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Centre for MND Research , Macquarie University , Sydney , Australia., Atkin JD; a Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Centre for MND Research , Macquarie University , Sydney , Australia.; b Department of Biochemistry and Genetics , La Trobe Institute for Molecular Science, La Trobe University , Melbourne , Australia. |
| المصدر: | Critical reviews in biochemistry and molecular biology [Crit Rev Biochem Mol Biol] 2018 Dec; Vol. 53 (6), pp. 623-651. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 8903774 Publication Model: Print Cited Medium: Internet ISSN: 1549-7798 (Electronic) Linking ISSN: 10409238 NLM ISO Abbreviation: Crit Rev Biochem Mol Biol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Boca Raton, Fla. : CRC Press, c1989- |
| مواضيع طبية MeSH: | Amyotrophic Lateral Sclerosis/*enzymology , C9orf72 Protein/*metabolism , Cell Membrane/*metabolism , rab GTP-Binding Proteins/*metabolism, Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Biological Transport, Active ; C9orf72 Protein/genetics ; Cell Membrane/genetics ; Cell Membrane/pathology ; Humans ; rab GTP-Binding Proteins/genetics |
| مستخلص: | Rab GTPases are becoming increasingly implicated in neurodegenerative disorders, although their role in amyotrophic lateral sclerosis (ALS) has been somewhat overlooked. However, dysfunction of intracellular transport is gaining increasing attention as a pathogenic mechanism in ALS. Many previous studies have focused axonal trafficking, and the extreme length of axons in motor neurons may contribute to their unique susceptibility in this disorder. In contrast, the role of transport defects within the cell body has been relatively neglected. Similarly, whilst Rab GTPases control all intracellular membrane trafficking events, their role in ALS is poorly understood. Emerging evidence now highlights this family of proteins in ALS, particularly the discovery that C9orf72 functions in intra transport in conjunction with several Rab GTPases. Here, we summarize recent updates on cellular transport defects in ALS, with a focus on Rab GTPases and how their dysfunction may specifically target neurons and contribute to pathophysiology. We discuss the molecular mechanisms associated with dysfunction of Rab proteins in ALS. Finally, we also discuss dysfunction in other modes of transport recently implicated in ALS, including nucleocytoplasmic transport and the ER-mitochondrial contact regions (MAM compartment), and speculate whether these may also involve Rab GTPases. |
| فهرسة مساهمة: | Keywords: Amyotrophic lateral sclerosis; Rab GTPases; cellular trafficking; motor neuron disease; neurodegeneration |
| المشرفين على المادة: | 0 (C9orf72 Protein) 0 (C9orf72 protein, human) EC 3.6.5.2 (rab GTP-Binding Proteins) |
| تواريخ الأحداث: | Date Created: 20190212 Date Completed: 20190503 Latest Revision: 20190503 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1080/10409238.2018.1553926 |
| PMID: | 30741580 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1549-7798 |
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| DOI: | 10.1080/10409238.2018.1553926 |