Expansion explosion: New clues to the pathogenesis of repeat expansion neurodegenerative diseases

Research output: Contribution to journalArticle

Abstract

The expansion in the identification of repeat expansion neurodegenerative diseases is leading to an increase in our understanding of their molecular mechanisms. Neuronal cell death is likely to be caused mainly by genetic gain-of-function mechanisms, with possible contribution from loss-of-function mechanisms as well. Postulated mechanisms involve abnormalities of protein folding, chaperone interactions, alterations in gene transcription, loss of neurotrophic support, and involvement of signal transduction pathways. Understanding the pathogenesis in these diseases is leading to the development of therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)479-482
Number of pages4
JournalTrends in Molecular Medicine
Volume7
Issue number11
DOIs
StatePublished - 2001

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Explosions
Protein Folding
Neurodegenerative Diseases
Signal Transduction
Cell Death
Genes
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Expansion explosion: New clues to the pathogenesis of repeat expansion neurodegenerative diseases",
abstract = "The expansion in the identification of repeat expansion neurodegenerative diseases is leading to an increase in our understanding of their molecular mechanisms. Neuronal cell death is likely to be caused mainly by genetic gain-of-function mechanisms, with possible contribution from loss-of-function mechanisms as well. Postulated mechanisms involve abnormalities of protein folding, chaperone interactions, alterations in gene transcription, loss of neurotrophic support, and involvement of signal transduction pathways. Understanding the pathogenesis in these diseases is leading to the development of therapeutic strategies.",
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