Alves, Victoria Cunha Figueiro-Silva, Joana Ferrer, Isidre Carro, Eva
Published in
Cellular and molecular life sciences : CMLS
Modulation of brain olfactory (OR) and taste receptor (TASR) expression was recently reported in neurological diseases. However, there is still limited evidence of these genes' expression in the human brain and the transcriptional regulation mechanisms involved remain elusive. We explored the possible expression and regulation of selected OR and TA...
Lu, Sijia Chen, Yongchang Wang, Zhengbo
Published in
Animal models and experimental medicine
Rett syndrome (RTT) is a progressive neurodevelopmental disorder that occurs mainly in girls with a range of typical symptoms of autism spectrum disorders. MeCP2 protein loss-of-function in neural lineage cells is the main cause of RTT pathogenicity. As it is still hard to understand the mechanism of RTT on the basis of only clinical patients or an...
He, Xi-Biao Guo, Fang Li, Kexuan Yan, Jiaqing Lee, Sang-Hun
Published in
Stem cells (Dayton, Ohio)
Midbrain dopamine (DA) neurons are associated with locomotor and psychiatric disorders. DA phenotype is specified in ancestral neural precursor cells (NPCs) and maintained throughout neuronal differentiation. Here we show that endogenous expression of MeCP2 coincides with DA phenotype specification in mouse mesencephalon, and premature expression o...
Schmidt, Annika Frei, Jana Poetsch, Ansgar Chittka, Alexandra Zhang, Hui Aßmann, Chris Lehmkuhl, Anne Bauer, Uta-Maria Nuber, Ulrike A. Cardoso, M. Cristina
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Published in
Frontiers in Cell and Developmental Biology
Rett syndrome is a human intellectual disability disorder that is associated with mutations in the X-linked MECP2 gene. The epigenetic reader MeCP2 binds to methylated cytosines on the DNA and regulates chromatin organization. We have shown previously that MECP2 Rett syndrome missense mutations are impaired in chromatin binding and heterochromatin ...
Huang, Lixuan He, Lujuan Ma, Ruijia Ding, Wanzhao Zhou, Chan Lin, Song Zhang, Ji-Chun Chen, Jiaxu Yao, Wei
Published in
Psychopharmacology
There is accumulating evidence to support the idea that brain-derived neurotrophic factor (BDNF) is involved in stress resilience. However, the precise molecular mechanisms underlying resilience in major depressive disorder (MDD) remain unknown. The objective of this study was to explore the role of methyl CpG binding protein 2 (MeCP2) and the BDNF...
Guan, Chun-Yi Cao, Jing-Li Zhang, Lu Wang, Xue-Qin Ma, Xu Xia, Hong-Fei
Published in
Frontiers in Endocrinology
Gestational diabetes mellitus (GDM), the most common medical pregnancy complication, has become a growing problem. More and more studies have shown that microRNAs are closely related to metabolic processes. The purpose of this paper is to investigate the role of up-regulation of miR-199a-5p expression in GDM. We found that miR-199a-5p was significa...
Xia, Shengnan Xu, Hua-Tai
Published in
Neuroscience bulletin
Abnormal synchronous neuronal activity has been widely detected by brain imaging of autistic patients, but its underlying neural mechanism remains unclear. Compared with wild-type mice, our in vivo two-photon imaging showed that transgenic (Tg1) mice over-expressing human autism risk gene MeCP2 exhibited higher neuronal synchrony in the young but l...
Steinkellner, Hannes Kempaiah, Prakasha Beribisky, Alexander V Pferschy, Sandra Etzler, Julia Huber, Anna Sarne, Victoria Neuhaus, Winfried Kuttke, Mario Bauer, Jan
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Published in
International journal of biological macromolecules
Rett syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants leading to functional impairment of the MeCP2 protein. Here, we used purified recombinant MeCP2e1 and MeCP2e2 protein variants fused to a TAT protein transduction domain (PTD) to evaluate their transduction ability into RTT patient-derived fibroblasts and the ability...
Choi, Miyeon Ko, Seung Yeon Seo, Jee Young Kim, Do Gyeong Lee, Huiju Chung, Heekyoung Son, Hyeon
Published in
BMB Reports
Autism or autism spectrum disorder (ASD) is a behavioral syndrome characterized by persistent deficits in social interaction, and repetitive patterns of behavior, interests, or activities. The gene encoding Methyl-CpG binding protein 2 ( MeCP2 ) is one of a few exceptional genes of established causal effect in ASD. Although genetically engineered m...
Beribisky, Alexander V. Steinkellner, Hannes Geislberger, Sofia Huber, Anna Sarne, Victoria Christodoulou, John Laccone, Franco
Published in
The Protein Journal
The transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2) is an intrinsically disordered protein, mutations in which, are implicated in the onset of Rett Syndrome, a severe and debilitating neurodevelopmental disorder. Delivery of this protein fused to the cell-penetrating peptide TAT could allow for the intracellular replenishment of func...