...Eleonora Giagnorio; Claudia Malacarne; Renato Mantegazza; Silvia Bonanno; Stefania Marcuzzo ABSTRACT Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of both upper and lower motor neurons (MNs). The main clinical features of ALS are motor function...

...Mirjana Malnar; Boris Rogelj ABSTRACT The expanded GGGGCC repeat mutation in the C9orf72 gene is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansion is transcribed to sense and antisense RNA, which form...

...Natasha Vassileff; Lesley Cheng; Andrew F. Hill ABSTRACT Neurodegenerative diseases are characterised by the irreversible degeneration of neurons in the central or peripheral nervous systems. These include amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Parkinson's disease (PD...

... of coexisting RNA-rich sub-compartments with liquid-like properties in living cells. Cellular compartment Intrinsically disordered regions Stress granules Amyotrophic lateral sclerosis Genopole 10.13039/501100007149 Institut National de la Santé et de la Recherche Médicale...

... of familial amyotrophic lateral sclerosis (ALS). FUS aggregates are also pathognomonic for 10% of all frontotemporal lobar degeneration (FTLD) cases; however, these cases are not associated with mutations in the gene encoding FUS. This suggests that there are differences in the mechanisms that drive inclusion...

... expansion, the major genetic cause of amyotrophic lateral sclerosis (ALS), is still poorly defined. In this work, we set out to characterise these mechanisms by identifying proteins that bind to C9orf72 RNA. Sequestration of some of these factors into RNA foci was observed when a (G4C2) 31 repeat...

... defective autophagy in neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), Alzheimer's disease, Parkinson's disease and Huntington's disease. Recent work using live-cell imaging has identified autophagy as a predominantly polarized process in neuronal axons; autophagosomes...

... in protein inclusions observed in various neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), Huntington's disease, Alzheimer's disease, Parkinson's disease, Creutzfeld-Jacob disease and Pick's disease. Optineurin deletion mutations have also been described in ALS patients. However...

...Duvinh Tran; Antonious Chalhoub; Allana Schooley; Wendy Zhang; Johnny K. Ngsee Summary A proline to serine mutation (P56S) in vesicle-associated membrane protein-associated protein B and C (VAPB) causes an autosomal dominant form of amyotrophic lateral sclerosis (ALS). We show that the mutation...

... with syncoilin. Our analyses suggest that syncoilin might function to modulate formation of peripherin filament networks through binding to peripherin isoforms. Peripherin is associated with the disease amyotrophic lateral sclerosis (ALS), thus establishing a link between syncoilin and ALS. A neuronal analysis...

... for review Trojanowski and Lee, 1994 ) including motor neurone disease or amyotrophic lateral sclerosis (ALS) ( Hirano, 1991 ; Leigh and Garafolo, 1995). Understanding the mechanisms that regulate NF-H side-arm phosphorylation are thus relevant to normal neuronal biology and also to pathogenic mechanisms...

... and cytoplasmic distribution of membranous organelles. Interestingly, virtually all of these changes closely resemble those which have been reported in motor neuron diseases such as amyotrophic lateral sclerosis (ALS). These findings suggest that cultured neurons can be used as models for more precisely defining...