Genetics of Familial Amyotrophic Lateral Sclerosis

Goodall, Gerald; Bury, Joanna J.; Cooper‐Knock, Johnathan; Shaw, Pamela J.; Kirby, Janine

doi:10.5772/32498

Cited by 1 publication

(1 citation statement)

References 115 publications

(86 reference statements)

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“…Clinically, familial and sporadic ALS are very similar, with the exception of an earlier than the typical mid-life onset in some familial cases. Several genes have now been identified as causative in ALS of which the most frequent are C9ORF72 , superoxide dismutase 1 ( SOD1 ), transactive response DNA-binding protein ( TARDBP ) and fused in sarcoma ( FUS ) (Goodall et al, 2012). The proteins encoded by the latter 3 genes, SOD1, TDP-43, and FUS, have been found within the ubiquitinated inclusions that are pathological hallmarks of ALS (Al-Chalabi et al, 2012).…”

Section: Mirnas In Neurodegenerative Disordersmentioning

confidence: 99%

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

Goodall

Heath

Bandmann

et al. 2013

Front. Cell. Neurosci.

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174

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MicroRNAs (miRNAs) are small, abundant RNA molecules that constitute part of the cell's non-coding RNA “dark matter.” In recent years, the discovery of miRNAs has revolutionised the traditional view of gene expression and our understanding of miRNA biogenesis and function has expanded. Altered expression of miRNAs is increasingly recognized as a feature of many disease states, including neurodegeneration. Here, we review the emerging role for miRNA dysfunction in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS) and Huntington's disease pathogenesis. We emphasize the complex nature of gene regulatory networks and the need for systematic studies, with larger sample cohorts than have so far been reported, to reveal the most important miRNA regulators in disease. Finally, miRNA diversity and their potential to target multiple pathways, offers novel clinical applications for miRNAs as biomarkers and therapeutic agents in neurodegenerative diseases.

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Section: Mirnas In Neurodegenerative Disordersmentioning

confidence: 99%