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Retrotransposons in the development and progression of amyotrophic lateral sclerosis

Savage, A.L.ORCID: 0000-0002-2231-9800, Schumann, G.G., Breen, G., Bubb, V.J., Al-Chalabi, A. and Quinn, J.P. (2019) Retrotransposons in the development and progression of amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 90 (3). pp. 284-293.

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Endogenous retrotransposon sequences constitute approximately 42% of the human genome, and mobilisation of retrotransposons has resulted in rearrangements, duplications, deletions, novel transcripts and the introduction of new regulatory domains throughout the human genome. Both germline and somatic de novo retrotransposition events have been involved in a range of human diseases, and there is emerging evidence for the modulation of retrotransposon activity during the development of specific diseases. Particularly, there is unequivocal consensus that endogenous retrotransposition can occur in neuronal lineages. This review addresses our current knowledge of the different mechanisms through which retrotransposons might influence the development of and predisposition to amyotrophic lateral sclerosis.

Item Type: Journal Article
Publisher: BMJ Publishing Group
Copyright: © Author(s) (or their employer(s)) 2019
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