Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD
| Autor: | Claudia Fallini, Bilal Khalil, Wilfried Rossoll, Courtney L. Smith |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Active Transport Cell Nucleus Disease RNA GRANULES Biology Article AMYOTROPHIC-LATERAL-SCLEROSIS lcsh:RC321-571 Pathogenesis 03 medical and health sciences 0302 clinical medicine IMPORT RECEPTORS mental disorders medicine PROTEIN IMPORT Animals Humans ALS/FTD Nuclear pore Amyotrophic lateral sclerosis lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Cell Nucleus FRONTOTEMPORAL LOBAR DEGENERATION Science & Technology Nucleocytoplasmic transport C9orf72 Protein Amyotrophic Lateral Sclerosis FUS INCLUSIONS Neurosciences medicine.disease REPEAT EXPANSION FG-NUCLEOPORINS DNA-Binding Proteins 030104 developmental biology Neurology Nucleocytoplasmic Transport Frontotemporal Dementia Nuclear Pore PERMEABILITY BARRIER Nucleoporin Neurosciences & Neurology Nuclear transport Neuroscience Life Sciences & Biomedicine 030217 neurology & neurosurgery Frontotemporal dementia PHASE-SEPARATION |
| Zdroj: | Neurobiol Dis Neurobiology of Disease, Vol 140, Iss, Pp 104835-(2020) |
| Popis: | Amyotrophic lateral sclerosis (ALS) is a fatal late-onset neurodegenerative disease that specifically affects the function and survival of spinal and cortical motor neurons. ALS shares many genetic, clinical, and pathological characteristics with frontotemporal dementia (FTD), and these diseases are now recognized as presentations of a disease spectrum known as ALS/FTD. The molecular determinants of neuronal loss in ALS/FTD are still debated, but the recent discovery of nucleocytoplasmic transport defects as a common denominator of most if not all forms of ALS/FTD has dramatically changed our understanding of the pathogenic mechanisms of this disease. Loss of nuclear pores and nucleoporin aggregation, altered nuclear morphology, and impaired nuclear transport are some of the most prominent features that have been identified using a variety of animal, cellular, and human models of disease. Here, we review the experimental evidence linking nucleocytoplasmic transport defects to the pathogenesis of ALS/FTD and propose a unifying view on how these defects may lead to a vicious cycle that eventually causes neuronal death. ispartof: NEUROBIOLOGY OF DISEASE vol:140 ispartof: location:United States status: published |
| Databáze: | OpenAIRE |
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