Results 61 to 70 of about 33,901 (278)

Mammalian Proteome Profiling Reveals Readers and Antireaders of Strand‐Symmetric and ‐Asymmetric 5‐Hydroxymethylcytosine‐Modifications in DNA

Advanced Science, EarlyView.
We investigate by proteomics studies how strand‐symmetric and ‐asymmetric cytosine 5‐modifications in DNA are selectively recognized by the nuclear proteome. Using promoter probes with defined modification patterns, we identify tissue‐specific reader proteinsincluding MYC, MAX, and RFX5that discriminate 5‐hydroxymethylcytosine symmetry and sequence ...
Lena Engelhard, Zeyneb Vildan Cakil, Marlon S. Zambrano‐Mila, Simone Eppmann, Tye Gonzalez, Rasmus Linser, Petra Janning, Sidney Becker, Daniel Summerer   +8 more
wiley   +1 more source

The MECP2 duplication syndrome [PDF]

American Journal of Medical Genetics Part A, 2010
AbstractIn this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X‐linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to ...
Melissa B, Ramocki, Y Jane, Tavyev, Sarika U, Peters   +2 more
openaire   +2 more sources

Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons [PDF]

, 2016
Mutations in the MECP2 gene cause the neurodevelopmental disorder Rett syndrome (RTT). Previous studies have shown that altered MeCP2 levels result in aberrant neurite outgrowth and glutamatergic synapse formation.
Abuhatzira, Amir, Belichenko, Blackman, Blöchl, Bouzioukh, Braunschweig, Brigadski, Cadigan, Cazorla, Chahrour, Chang, Chao, Chao, Chen, Cheng, Collins, Dani, De Wit, de Wit, Deng, Deogracias, Finsterwald, Giacometti, Gottmann, Guy, Guy, Jang, Jentarra, Johnson, Jugloff, Kim, Kishi, Kline, Kohara, Kolarow, Kondo, Kron, Larimore, Li, Lois, Lonetti, Luikenhuis, Martinowich, Massa, McAllister, McGraw, Nguyen, Ogier, Papkoff, Park, Poduslo, Poo, Rett, Rietveld, Rosenmund, Roux, Sahay, Schmid, Tolwani, Tropea, Tudor, Wan, Wang, Wang, Xiang, Zhang, Zhou   +67 more
core   +2 more sources

Flipping the Switch: MeCP2‐Mediated Lactylation Rewires Microglial Metabolism and Inflammation via the HK2/mTOR Axis in Poststroke Neuroinflammation

Advanced Science, EarlyView.
Stroke‐induced lactate accumulation promotes p300‐mediated lactylation of methyl‐CpG binding protein 2 (MeCP2) at lysine 210, which reprograms microglial metabolism toward glycolysis and activates the hexokinase 2 (HK2)/mTOR axis. This cascade promotes proinflammatory responses and impairs neurofunctional outcomes.
Zengyu Zhang, Shanshan Huang, Yong Wang, Zhiwen Jiang, Zhuohang Liu, Chenran Wang, Rong Ji, Yiwen Yuan, Xueyu Mao, Kaicheng Yang, Huicong Niu, Yanqin Gao, Jing Zhao   +12 more
wiley   +1 more source

Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome:therapeutic perspectives for 5-HT1A agonists [PDF]

, 2014
Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Abdala, Ana Paula, Bissonnette, John, Newman-Tancredi, Adrian   +2 more
core   +3 more sources

NanoLoop: A Deep Learning Framework Leveraging Nanopore Sequencing for Chromatin Loop Prediction

Advanced Science, EarlyView.
Chromatin loops are central to gene regulation and 3D genome organization. Leveraging Nanopore sequencing's ability to jointly capture DNA sequence and methylation, we present NanoLoop, the first framework for genome‐wide chromatin loop prediction using Nanopore data.
Wenjie Huang, Li Tang, Matthew C. Hill, Yonghao Zhang, Jun Xie, Min Li   +5 more
wiley   +1 more source

MECP2 impairs neuronal structure by regulating KIBRA

Neurobiology of Disease, 2016
Using a Drosophila model of MECP2 gain-of-function, we identified memory associated KIBRA as a target of MECP2 in regulating dendritic growth. We found that expression of human MECP2 increased kibra expression in Drosophila, and targeted RNAi knockdown ...
Alison A. Williams, Robin White, Ashley Siniard, Jason Corneveaux, Matt Huentelman, Carsten Duch   +5 more
doaj   +1 more source

MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα

Cell Death and Disease, 2021
Duplication of MECP2 (methyl-CpG-binding protein 2) gene causes a serious neurological and developmental disorder called MECP2 duplication syndrome (MDS), which is usually found in males. A previous clinical study reported that MDS patient has precocious
Yu-Meng Wang, Yu Wu, Yu-Fang Zheng, Hong-Yan Wang   +3 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

MeCP2 interacts with chromosomal microRNAs in brain

Epigenetics, 2017
Although methyl CpG binding domain protein-2 (MeCP2) is commonly understood to function as a silencing factor at methylated DNA sequences, recent studies also show that MeCP2 can bind unmethylated sequences and coordinate gene activation.
Abdul Waheed Khan, Mark Ziemann, Haloom Rafehi, Scott Maxwell, Giuseppe D. Ciccotosto, Assam El-Osta   +5 more
doaj   +1 more source