Results 31 to 40 of about 15,547 (147)

TrxR2 Lactylation Facilitates Mitochondrial Protection and Endothelial Ferroptosis Resistance in Diabetic Cardiomyopathy

Advanced Science, EarlyView.
TrxR2 deletion in diabetic mice suppresses TUFM‐AMPK‐FUNDC1‐dependent mitophagy in endothelial cells, resulting in SCP2 upregulation and mitochondrial translocation of ACSL4. Mitochondrial ACSL4 promotes mitochondrial eicosanoid biosynthesis and ferroptosis, thereby aggravating cardiac microvascular injury and diabetic cardiomyopathy.
Su Li, Muyin Liu, Chao Chen, Xinyan Li, Xiaopei Yan, Wentao Zhu, Wenyan Qiu, Qiyu Li, Xiangyu Sun, Chao Huang, Ming Yin, Zhangwei Chen, Yao Lu, Junbo Ge, Xiangqing Kong, Juying Qian, Yuqiong Chen   +16 more
wiley   +1 more source

MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. [PDF]

PLoS ONE, 2009
BACKGROUND:Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment.
Mojgan Rastegar, Akitsu Hotta, Peter Pasceri, Maisam Makarem, Aaron Y L Cheung, Shauna Elliott, Katya J Park, Megumi Adachi, Frederick S Jones, Ian D Clarke, Peter Dirks, James Ellis   +11 more
doaj   +1 more source

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel, Jacob Ellegood, Jason P. Lerch, Nathalie G. Bérubé   +3 more
wiley   +1 more source

A central role for MeCP2 in the epigenetic repression of miR-200c during epithelial-to-mesenchymal transition of glioma

Journal of Experimental & Clinical Cancer Research, 2019
Background The epithelial-to-mesenchymal transition (EMT) has been linked to the regulation of glioma progression. However, the underlying signaling mechanisms that regulate EMT are poorly understood.
Erbao Bian, Xueran Chen, Yadi Xu, Xinghu Ji, Meng Cheng, Hongliang Wang, Zhiyou Fang, Bing Zhao   +7 more
doaj   +1 more source

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin, Alicia Janvier, Tristan Moujellil‐Legagneur, Marine Blaquière, Alexis Chaussy, Romane Privé, Fabrice Duprat, Massimo Mantegazza, Etienne Audinat, Nicola Marchi, Noémie Cresto   +10 more
wiley   +1 more source

MeCP2 confers 5-fluorouracil resistance in gastric cancer via upregulating the NOX4/PKM2 pathway

Cancer Cell International, 2022
Background Increasing evidence suggests that aberrant methylation is involved in 5-fluorouracil (5-FU) resistance in gastric cancer (GC). Our previous work has identified that Methyl-CpG binding protein 2 (MeCP2) promotes GC progression by binding to the
Yannan Qin, Xiaoping Ma, Chen Guo, Shuang Cai, Hailin Ma, Lingyu Zhao   +5 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

Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion

BMC Neuroscience
Background Methyl CpG binding protein 2 (MECP2) is an essential global modulator of transcription and mutations in MECP2 are the most common cause of Rett syndrome, an X-linked neurodevelopmental disorder.
Soaleha Shams, Pierre Cronell, Jenny Landin, Thomas Pietri, Adrian Ekehorn Gimdal, Petronella Kettunen, Lars Westberg   +6 more
doaj   +1 more source

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

Neurobiology of Disease, 2009
The expression of the methylated DNA-binding protein MeCP2 increases during neuronal development, which suggests that this epigenetic factor is crucial for neuronal terminal differentiation.
Jennifer L. Larimore, Christopher A. Chapleau, Shinichi Kudo, Anne Theibert, Alan K. Percy, Lucas Pozzo-Miller   +5 more
doaj   +1 more source

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
doaj   +1 more source