Concepedia

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Sarah Williamson, Laura Giudici, Charlotte Kilstrup‐Nielsen, Wendy Gold, Gregory J. Pelka, Patrick Tam, Andrew Grimm, Dionigio Antonio Prodi, Nicoletta Landsberger, John Christodoulou

Human Genetics · 2011 · 51 citations · 38 references

DOI

Concepts

References

38

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

, , +9

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

Maria H. Chahrour, Sung Yun Jung, Chad A. Shaw et al. · Science · 2008 · 1.8K citations

, , +17

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

Peter J. Skene, Robert S. Illingworth, Shaun Webb et al. · Molecular Cell · 2010 · 707 citations · Full text

, , +17

Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome

Paolo Moretti, Jonathan M. Levenson, Fortunato Battaglia et al. · Journal of Neuroscience · 2006 · 546 citations · Full text

, , +17

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 500 citations · Full text

, , +14