Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

Neurogenetics ◽  
2019 ◽  
Vol 20 (4) ◽  
pp. 197-208 ◽  
Author(s):  
Priyam Narain ◽  
Aditya K. Padhi ◽  
Upma Dave ◽  
Dibyakanti Mishra ◽  
Rohit Bhatia ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Identification And Characterization ◽  
Lateral Sclerosis

Identification and Characterization of Cholest-4-en-3-one, Oxime (TRO19622), a Novel Drug Candidate for Amyotrophic Lateral Sclerosis

2007 ◽  
Vol 322 (2) ◽  
pp. 709-720 ◽  
Author(s):  
Thierry Bordet ◽  
Bruno Buisson ◽  
Magali Michaud ◽  
Cyrille Drouot ◽  
Pascale Galéa ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Drug Candidate ◽  
Novel Drug ◽  
Identification And Characterization ◽  
Lateral Sclerosis

scholarly journals RNA Deregulation in Amyotrophic Lateral Sclerosis: The Noncoding Perspective

2021 ◽  
Vol 22 (19) ◽  
pp. 10285
Author(s):  
Pietro Laneve ◽  
Paolo Tollis ◽  
Elisa Caffarelli
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Potential Role ◽  
Noncoding Rnas ◽  
Rna Metabolism ◽  
Biological Processes ◽  
Diagnostic Biomarkers ◽  
Defective Rna ◽  
Almost All ◽  
Lateral Sclerosis

RNA metabolism is central to cellular physiopathology. Almost all the molecular pathways underpinning biological processes are affected by the events governing the RNA life cycle, ranging from transcription to degradation. The deregulation of these processes contributes to the onset and progression of human diseases. In recent decades, considerable efforts have been devoted to the characterization of noncoding RNAs (ncRNAs) and to the study of their role in the homeostasis of the nervous system (NS), where they are highly enriched. Acting as major regulators of gene expression, ncRNAs orchestrate all the steps of the differentiation programs, participate in the mechanisms underlying neural functions, and are crucially implicated in the development of neuronal pathologies, among which are neurodegenerative diseases. This review aims to explore the link between ncRNA dysregulation and amyotrophic lateral sclerosis (ALS), the most frequent motoneuron (MN) disorder in adults. Notably, defective RNA metabolism is known to be largely associated with this pathology, which is often regarded as an RNA disease. We also discuss the potential role that these transcripts may play as diagnostic biomarkers and therapeutic targets.

scholarly journals Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq

PLoS ONE ◽  
2013 ◽  
Vol 8 (4) ◽  
pp. e60788 ◽  
Author(s):  
Marka van Blitterswijk ◽  
Eric T. Wang ◽  
Brad A. Friedman ◽  
Pamela J. Keagle ◽  
Patrick Lowe ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Rna Seq ◽  
Lateral Sclerosis
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