Results 51 to 60 of about 51,321 (256)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Human neuronal cells: epigenetic aspects

Biomolecular Concepts, 2013
Histone acetyltransferases (HATs) and histone deacetylases (HDACs) promote histone posttranslational modifications, which lead to an epigenetic alteration in gene expression. Aberrant regulation of HATs and HDACs in neuronal cells results in pathological
Kukucka Jessica, Wyllie Tessa, Read Justin, Mahoney Lauren, Suphioglu Cenk   +4 more
doaj   +1 more source

Unmasking the biological function and regulatory mechanism of NOC2L: a novel inhibitor of histone acetyltransferase

Journal of Translational Medicine, 2023
NOC2 like nucleolar associated transcriptional repressor (NOC2L) was recently identified as a novel inhibitor of histone acetyltransferase (INHAT).
Siyi Lu, Zhaoyu Chen, Zhenzhen Liu, Zhentao Liu   +3 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

PRMT1‐Mediated LDHA Methylation Drives STAT3 Lactylation to Orchestrate Intestinal Inflammation and Tumorigenesis

Advanced Science, EarlyView.
This study identifies an immunometabolic axis wherein SAM‐driven PRMT1 methylates LDHA, enhancing its activity. The resultant lactate induces STAT3 K709 lactylation, which stabilizes an active conformation to promote STAT3 phosphorylation and IL‐10 expression.
Hui Wang, Mengyu Zhang, Weipeng Gong, Jiaxuan Wu, Junping Zhang, Wenxiu Zhang, Yue Liu, Kui Wang, Canhua Huang, Jun Zhou, Sijin Wu, Yan Li, Tianliang Li   +12 more
wiley   +1 more source

Phosphorylation‐Facilitated CKB Lactylation At K11 By GCN5 Enhances Creatine Kinase Activity and Mitigates Neuronal Damage After Cerebral Ischemia‐Reperfusion

Advanced Science, EarlyView.
This study uncovers hierarchical coordination between K11 lactylation and S199 phosphorylation of CKB in cerebral ischemia‐reperfusion injury. Such dual modifications potentiate CKB enzymatic function, remodel energy metabolism, alleviate oxidative stress and neuronal damage, and represent a viable therapeutic target for stroke treatment.
Chao Duan, Ruolin Zhang, Shihui Ding, Ying Feng, Tao Shen, Ziwei Wang, Wendai Bao, Ke Shui, Jun Qin, Jun Chen, Min Zhang, Zijing Ren, Dongmei Zhao, Xingrong Guo, Zhibing Ai, Xin Yang, Peiyang Zhou, Zhiqiang Dong   +17 more
wiley   +1 more source

The role of histone deacetylases in human gastrointestinal and associated glands cancer [PDF]

Journal of Advanced Biomedical Sciences, 2019
Background & Objective: In the eukaryotic cells, the DNA wraps around the histone proteins (H2A, H2B, H3, and H4) and constitutes the nucleosome. Chromatin organization plays a major role in the control of gene expression.
Masumeh Sanaei, Fraidoon Kavoosi
doaj  

SIRT7 is a histone desuccinylase that functionally links to chromatin compaction and genome stability

Nature Communications, 2016
SIRT7 is a member of sirtuin family proteins that are described as NAD+-dependent class III histone deacetylases. Here, the authors show that SIRT7 is histone desuccinylase catalysing H3K122 desuccinylation, thereby promoting chromatin condensation and ...
Lei Li, Lan Shi, Shangda Yang, Ruorong Yan, Di Zhang, Jianguo Yang, Lin He, Wanjin Li, Xia Yi, Luyang Sun, Jing Liang, Zhongyi Cheng, Lei Shi, Yongfeng Shang, Wenhua Yu   +14 more
doaj   +1 more source

An RNA-seq transcriptome analysis of histone modifiers and RNA silencing genes in soybean during floral initiation process. [PDF]

PLoS ONE, 2013
Epigenetics has been recognised to play vital roles in many plant developmental processes, including floral initiation through the epigenetic regulation of gene expression.
Lim Chee Liew, Mohan B Singh, Prem L Bhalla   +2 more
doaj   +1 more source