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Serrano RJ, Lee C, Douek AM, et al. Novel pre-clinical model for CDKL5 Deficiency Disorder. Dis Model Mech. 2021;doi: 10.1242/dmm.049094.
Serrano, R. J., Lee, C., Douek, A. M., Kaslin, J., Bryson-Richardson, R. J., & Sztal, T. E. (2021). Novel pre-clinical model for CDKL5 Deficiency Disorder. Disease models & mechanisms, . https://doi.org/10.1242/dmm.049094
Serrano, Rita J, et al. "Novel pre-clinical model for CDKL5 Deficiency Disorder." Disease models & mechanisms vol. (2021). doi: https://doi.org/10.1242/dmm.049094
Serrano RJ, Lee C, Douek AM, Kaslin J, Bryson-Richardson RJ, Sztal TE. Novel pre-clinical model for CDKL5 Deficiency Disorder. Dis Model Mech. 2021 Dec 16; doi: 10.1242/dmm.049094. Epub 2021 Dec 16. PMID: 34913468.
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Dis Model Mech. 2021 Dec 16; doi: 10.1242/dmm.049094. Epub 2021 Dec 16.

Novel pre-clinical model for CDKL5 Deficiency Disorder.

Disease models & mechanisms

Rita J Serrano, Clara Lee, Alon M Douek, Jan Kaslin, Robert J Bryson-Richardson, Tamar E Sztal

Affiliations

  1. School of Biological Sciences, Monash University, Melbourne, Australia.
  2. Australian Regenerative Medicine Institute, Monash University, Melbourne, Australia.

PMID: 34913468 DOI: 10.1242/dmm.049094

Abstract

Cyclin-Dependent Kinase-Like-5 (CDKL5) Deficiency Disorder (CDD) is a severe X-linked neurodegenerative disease characterized by early-onset epileptic seizures, low muscle tone, progressive intellectual disability, and severe motor function. CDD affects approximately 1 in 60,000 live births with many patients experiencing a reduced quality of life due to the severity of their neurological symptoms and functional impairment. There are no effective therapies for CDD with current treatments focusing on improving symptoms rather than addressing the underlying causes of the disorder. Zebrafish offer many unique advantages for high-throughput pre-clinical evaluation of potential therapies for neurological diseases, including CDD. In particular, the large number of offspring produced, together with the possibilities for in vivo imaging and genetic manipulation, allows for the detailed assessment of disease pathogenesis and therapeutic discovery. We have characterised a loss of function zebrafish model for CDD, containing a nonsense mutation in cdkl5. cdkl5 mutant zebrafish display defects in neuronal patterning, seizures, microcephaly, and reduced muscle function caused by impaired muscle innervation. This study provides a powerful vertebrate model to investigate CDD disease pathophysiology and allow high-throughput screening for effective therapies.

© 2021. Published by The Company of Biologists Ltd.

Keywords: CDKL5 Deficiency Disorder; Locomotion; Microcephaly; Motor neurons; Seizure; Zebrafish

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