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Molecular Neurodegeneration
Published in: Molecular Neurodegeneration 1/2013

Open Access 01-09-2013 | Poster presentation

Ataxia-telangiectasia paradoxes: spotlight on post-zygotic chromosome instability in the brain and its contribution to neurodegeneration pathways

Authors: Yuri Yurov, Svetlana Vorsanova, Thomas Liehr, Ivan Yurov

Published in: Molecular Neurodegeneration | Special Issue 1/2013

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Excerpt

Ataxia-telangiectasia is a syndrome of chromosome instability (CIN) featured by progressive neurodegeneration affecting the cerebellumin in contrast to other brain areas. Previously, progressive neuronal death in AT was hypothesized to be driven by increased post-zygotic CIN in the cerebellum [1‐3]. To assess the possible involvement of neural CIN in neurodegenerative pathways we have analyzed CIN in AT brain. …
Literature
1.
lourov IY, Vorsanova SG, Liehr T, Yurov YB: Aneuploidy in the normal, Alzheimer’s disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis. 2009, 34: 212-220. 10.1016/j.nbd.2009.01.003.CrossRef
2.
lourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB: Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum Mol Genet. 2009, 18: 2656-2669. 10.1093/hmg/ddp207.CrossRef
3.
Yurov YB, Vorsanova SG, Tagirova MK, lourov IY: Genetic paradoxes of neurodegeneration in ataxia telangiectasia (Louis-Bar syndrome). Fundamental research. 2013, 1 (part 2): 315-326.
4.
lourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB: Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Mol Cytogenet. 2012, 5: 46-10.1186/1755-8166-5-46.CrossRef
Metadata
Title
Ataxia-telangiectasia paradoxes: spotlight on post-zygotic chromosome instability in the brain and its contribution to neurodegeneration pathways
Authors
Yuri Yurov
Svetlana Vorsanova
Thomas Liehr
Ivan Yurov
Publication date
01-09-2013
Publisher
BioMed Central
Published in
Molecular Neurodegeneration / Issue Special Issue 1/2013
Electronic ISSN: 1750-1326
DOI
https://doi.org/10.1186/1750-1326-8-S1-P51

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