Advances in Down Syndrome Research

1. Front Matter

   Pages I-X

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2. A new mouse model for Down syndrome

   • Y. Kazuki, T. C. Schulz, T. Shinohara, M. Kadota, R. Nishigaki, T. Inoue et al.

   Pages 1-20

3. Predicting pathway perturbations in Down syndrome

   • K. Gardiner

   Pages 21-37

4. Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer’s disease

   • K. S. Shim, R. Ferrando-Miguel, G. Lubec

   Pages 39-49

5. Cell cycle and cell size regulation in Down Syndrome cells

   • M. Rosner, A. Kowalska, A. Freilinger, A-R. Prusa, E. Marton, M. Hengstschläger

   Pages 51-58

6. Transcription factor REST dependent proteins are comparable between Down Syndrome and control brains: challenging a hypothesis

   • S. Y. Sohn, R. Weitzdoerfer, N. Mori, G. Lubec

   Pages 59-66

7. An altered antioxidant balance occurs in Down syndrome fetal organs: Implications for the “gene dosage effect” hypothesis

   • J. B. de Haan, B. Susil, M. Pritchard, I. Kola

   Pages 67-83

8. Overexpression of C1-tetrahydrofolate synthase in fetal Down Syndrome brain

   • M. Fountoulakis, T. Gulesserian, G. Lubec

   Pages 85-93

9. Increased expression of human reduced folate carrier in fetal Down syndrome brain

   • G. Lubec, M. Bajo, M. S. Cheon, H. Bajova, L. H. Matherly

   Pages 95-103

10. Chromosome 21 KIR channels in brain development

    • E. Thiery, S. Thomas, S. Vacher, A.-L. Delezoide, J. M. Delabar, N. Créau

    Pages 105-115

11. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down Syndrome brain

    • K. S. Shim, J. M. Bergelson, M. Furuse, V. Ovod, T. Krude, G. Lubec

    Pages 117-128

12. The MNB/DYRK1A protein kinase: Neurobiological functions and Down syndrome implications

    • B. Hämmerle, C. Elizalde, J. Galceran, W. Becker, F. J. Tejedor

    Pages 129-137

13. The MNB/DYRK1A protein kinase: Genetic and biochemical properties

    • J. Galceran, K. de Graaf, F. J. Tejedor, W. Becker

    Pages 139-148

14. Cytoskeleton derangement in brain of patients with Down Syndrome, Alzheimer’s disease and Pick’s disease

    • D. Pollak, N. Cairns, G. Lubec

    Pages 149-158

15. The cerebral cortex in Fetal Down Syndrome

    • U. Unterberger, G. Lubec, M. Dierssen, G. Stoltenburg-Didinger, J. C. Farreras, H. Budka

    Pages 159-163

16. Polysomnography in transgenic hSOD1 mice as Down syndrome model

    • D. Colas, J. London, R. Cespuglio, N. Sarda

    Pages 165-171

17. Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome

    • R. Nicham, R. Weitzdörfer, E. Hauser, M. Freidl, M. Schubert, E. Wurst et al.

    Pages 173-191

18. Overexpression of transcription factor BACH1 in fetal Down Syndrome brain

    • R. Ferrando-Miguel, M. S. Cheon, J.-W. Yang, G. Lubec

    Pages 193-205

19. Down syndrome and associated congenital malformations

    • B. L. Shapiro

    Pages 207-214

20. RNA Microarray analysis of channels and transporters in normal and fetal Down Syndrome (trisomy 21) brain

    • G. Lubec, S. Y. Sohn

    Pages 215-224

"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.

• Alzheimer's disease
• Chromosom
• Down syndrome
• Emotion
• Microarray
• Regulation
• Syndrom
• biological functions
• chromosome 21
• transcription

• Department of Pediatrics, University of Vienna, Vienna, Austria

  G. Lubec

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