MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

(2016) Taimoor I. Sheikh et al.   Scientific Reports

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

(2015) Chika Sakai et al.   HUMAN MUTATION

Developmental roles of protein N-terminal acetylation

(2015) Rui D. Silva et al.   PROTEOMICS

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

(2013) Dag H. Yasui et al.   HUMAN MOLECULAR GENETICS

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient

(2013) Taimoor I Sheikh et al.   Orphanet Journal of Rare Diseases

easyFRAP: an interactive, easy-to-use tool for qualitative and quantitative analysis of FRAP data

(2012) Maria Anna Rapsomaniki et al.   BIOINFORMATICS

Methyl CpG-binding Protein Isoform MeCP2_e2 Is Dispensable for Rett Syndrome Phenotypes but Essential for Embryo Viability and Placenta Development

(2012) Masayuki Itoh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Using bleach-chase to measure protein half-lives in living cells

(2012) Naama Geva-Zatorsky et al.   Nature Protocols

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

(2011) Bredford Kerr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MeCP2 Rett mutations affect large scale chromatin organization

(2011) Noopur Agarwal et al.   HUMAN MOLECULAR GENETICS

Proteome Half-Life Dynamics in Living Human Cells

(2011) E. Eden et al.   SCIENCE

N-Terminal Acetylation Inhibits Protein Targeting to the Endoplasmic Reticulum

(2011) Gabriella M. A. Forte et al.   PLOS BIOLOGY

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Protein N-Terminal Processing: Substrate Specificity ofEscherichia coliand Human Methionine Aminopeptidases

(2010) Qing Xiao et al.   BIOCHEMISTRY

The recruitment of acetylated and unacetylated tropomyosin to distinct actin polymers permits the discrete regulation of specific myosins in fission yeast

(2010) A. T. Coulton et al.   JOURNAL OF CELL SCIENCE

Profiling ofN-Acetylated Protein Termini Provides In-depth Insights into the N-terminal Nature of the Proteome

(2010) Andreas O. Helbig et al.   MOLECULAR & CELLULAR PROTEOMICS

N-Terminal Acetylation of Cellular Proteins Creates Specific Degradation Signals

(2010) C.-S. Hwang et al.   SCIENCE

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome

(2009) Carol J. Saunders et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recent advances in MeCP2 structure and functionThis paper is one of a selection of papers published in this Special Issue, entitled 29th Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

(2009) Kristopher C. Hite et al.   Biochemistry and Cell Biology

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

(2009) Renata L L Ferreira de Lima et al.   GENETICS IN MEDICINE

Synthetic Lethal Screens Identify Gene Silencing Processes in Yeast and Implicate the Acetylated Amino Terminus of Sir3 in Recognition of the Nucleosome Core

(2008) T. van Welsem et al.   MOLECULAR AND CELLULAR BIOLOGY

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

(2008) Yann Fichou et al.   NEUROGENETICS