Down syndrome

From understanding the neurobiology to therapy

Katheleen Gardiner, Yann Herault, Ira T. Lott, Stylianos E. Antonarakis, Roger H Reeves, Mara Dierssen

Research output: Contribution to journalArticle

Abstract

Downsyndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior.

Original languageEnglish (US)
Pages (from-to)14943-14945
Number of pages3
JournalJournal of Neuroscience
Volume30
Issue number45
DOIs
StatePublished - Nov 10 2010

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Neurobiology
Down Syndrome
Genome
Cognition
Chromosomes, Human, Pair 21
Brain
Human Chromosomes
Aneuploidy
Intellectual Disability
Therapeutics
Gene Expression
Research

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Gardiner, K., Herault, Y., Lott, I. T., Antonarakis, S. E., Reeves, R. H., & Dierssen, M. (2010). Down syndrome: From understanding the neurobiology to therapy. Journal of Neuroscience, 30(45), 14943-14945. https://doi.org/10.1523/JNEUROSCI.3728-10.2010

Down syndrome : From understanding the neurobiology to therapy. / Gardiner, Katheleen; Herault, Yann; Lott, Ira T.; Antonarakis, Stylianos E.; Reeves, Roger H; Dierssen, Mara.

In: Journal of Neuroscience, Vol. 30, No. 45, 10.11.2010, p. 14943-14945.

Research output: Contribution to journalArticle

Gardiner, K, Herault, Y, Lott, IT, Antonarakis, SE, Reeves, RH & Dierssen, M 2010, 'Down syndrome: From understanding the neurobiology to therapy', Journal of Neuroscience, vol. 30, no. 45, pp. 14943-14945. https://doi.org/10.1523/JNEUROSCI.3728-10.2010
Gardiner K, Herault Y, Lott IT, Antonarakis SE, Reeves RH, Dierssen M. Down syndrome: From understanding the neurobiology to therapy. Journal of Neuroscience. 2010 Nov 10;30(45):14943-14945. https://doi.org/10.1523/JNEUROSCI.3728-10.2010
Gardiner, Katheleen ; Herault, Yann ; Lott, Ira T. ; Antonarakis, Stylianos E. ; Reeves, Roger H ; Dierssen, Mara. / Down syndrome : From understanding the neurobiology to therapy. In: Journal of Neuroscience. 2010 ; Vol. 30, No. 45. pp. 14943-14945.
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