CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder-Reference-Cited by-同舟云学术

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CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder

Published:2018-02-20 Issue:9 Volume:27 Page:1572-1592
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Trazzi Stefania¹,De Franceschi Marianna¹,Fuchs Claudia¹,Bastianini Stefano¹,Viggiano Rocchina¹,Lupori Leonardo²,Mazziotti Raffaele³,Medici Giorgio¹,Lo Martire Viviana¹,Ren Elisa¹,Rimondini Roberto⁴,Zoccoli Giovanna¹,Bartesaghi Renata¹,Pizzorusso Tommaso²³⁵,Ciani Elisabetta¹

Affiliation:

1. 1Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy

2. BIO@SNS lab, Scuola Normale Superiore di Pisa, 56125 Pisa, Italy

3. NEUROFARBA Department, University of Florence, 50139 Florence, Italy

4. Department of Medical and Clinical Sciences, University of Bologna, 40126 Bologna, Italy

5. Institute of Neuroscience, CNR, 56125 Pisa, Italy

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/9/1572/24575624/ddy064.pdf

Reference62 articles.

1. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome;Mari;Hum. Mol. Genet,2005

2. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation;Bertani;J. Biol. Chem,2006

3. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy;Fehr;Eur. J. Hum. Genet,2013

4. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies;Guerrini;Epilepsia,2012

5. CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling;Chen;J. Neurosci,2010

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