Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S80A
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MECP2

NM_001110792.2:p.S80A

Associated Papers

Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomalies.

Dey S et al.

Brain Research, 2026

The Ca2+ Bridge: From Neurons to Circuits in Rett Syndrome.

Molina Calistro L et al.

International Journal of Molecular Sciences, 2025

Exploring the complexity of MECP2 function in Rett syndrome.

Liu Y et al.

Nature Reviews. Neuroscience, 2025

40360671 (PubMed )
Supplement: 41583_2025_926_MOESM1_ESM.pdf

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.

Sharaf-Eldin WE et al.

Journal, Genetic Engineering & Biotechnology, 2022

MeCP2 heterochromatin organization is modulated by arginine methylation and serine phosphorylation.

Schmidt A et al.

Frontiers in Cell and Developmental Biology, 2022

MECP2 Increases the Pro-Inflammatory Response of Microglial Cells and Phosphorylation at Serine 423 Regulates Neuronal Gene Expression upon Neuroinflammation.

Wittrahm R et al.

Cells, 2021

Emerging physiological and pathological roles of MeCP2 in non-neurological systems.

Wang J et al.

Archives of Biochemistry and Biophysics, 2021

MeCP2 and Chromatin Compartmentalization.

Schmidt A et al.

Cells, 2020

Regulation of neural differentiation, synaptic scaling and animal behavior by MeCP2 phophorylation.

Zhong X et al.

Neurobiology of Learning and Memory, 2019

Fibrogenic Activity of MECP2 Is Regulated by Phosphorylation in Hepatic Stellate Cells.

Moran-Salvador E et al.

Gastroenterology, 2019

Treating Rett syndrome: from mouse models to human therapies.

Vashi N et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2019

Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon, and prostate.

Pandey S et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2017

MiR-130a regulates neurite outgrowth and dendritic spine density by targeting MeCP2.

Zhang Y et al.

Protein & Cell, 2016

Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.

Williams AA et al.

Plos One, 2016

The complex genetics in autism spectrum disorders.

Hua R et al.

Science China. Life Sciences, 2015

Rett syndrome: a complex disorder with simple roots.

Lyst MJ et al.

Nature Reviews. Genetics, 2015

Role of mecp2 in experience-dependent epigenetic programming.

Zimmermann CA et al.

Genes, 2015

Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.

Bedogni F et al.

Neuroscience and Biobehavioral Reviews, 2014

Regulation and function of stimulus-induced phosphorylation of MeCP2.

Li H et al.

Frontiers in Biology, 2014

MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex.

Cheng TL et al.

Developmental Cell, 2014

MeCP2-Related Diseases and Animal Models.

Ezeonwuka CD et al.

Diseases (basel, Switzerland), 2014

MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?

Bellini E et al.

Frontiers in Cellular Neuroscience, 2014

MeCP2 phosphorylation in the brain: from transcription to behavior.

Damen D et al.

Biological Chemistry, 2013

Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice.

Li W et al.

Autism-open Access, 2012

The histone H3K36 demethylase Rph1/KDM4 regulates the expression of the photoreactivation gene PHR1.

Liang CY et al.

Nucleic Acids Research, 2011

In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system.

Díaz de León-Guerrero S et al.

The European Journal of Neuroscience, 2011

Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.

Lioy DT et al.

Autonomic Neuroscience : Basic & Clinical, 2011

Synaptic determinants of rett syndrome.

Boggio EM et al.

Frontiers in Synaptic Neuroscience, 2010

Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis.

Bracaglia G et al.

Embo Reports, 2009

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.

Tao J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."