Results 51 to 60 of about 110,208 (302)
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 +11 more
wiley +1 more source
Drug Design, Development and Therapy, 2022 Suhua Wang,1,2 Siyuan Han,1,2 Weiyan Cheng,1,2 Ruoyang Miao,1,2 Shasha Li,1,2 Xin Tian,1,2 Quancheng Kan1,2 1Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People’s Republic of China; 2Henan Key ...
Wang S +6 more
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Effects of 5-Fluorouracil on the Expression of Epigenetic Enzymes and Promoter Methylation of Selected Genes in Monolayer and Spheroid Cultures of Colorectal Cancer Cells [PDF]
Pharmaceutical SciencesBackground: Emerging evidence suggests that epigenetic mechanisms contribute to 5-fluorouracil (5-FU) resistance in colorectal cancer (CRC). However, there is limited research on the direct impact of 5-FU on epigenetic alterations in CRC.
Maryam Niknam +4 more
doaj +1 more source
Design and Synthesis of Hybrid Compounds as Epigenetic Modifiers
Pharmaceuticals, 2021 Epigenetic modifiers acting through polypharmacology mechanisms are promising compounds with which to treat several infectious diseases. Histone deacetylase (HDAC) enzymes, mainly class I, and extra-terminal bromodomains (BET) are involved in viral ...
Juliana Romano Lopes +4 more
doaj +1 more source
Turning off the switch in medulloblastoma. The inhibitory acetylation of an oncogene [PDF]
, 2010 [No abstract ...
CANETTIERI, Gianluca +4 more
core +1 more source
Tumor Biology, 2013 Histone deacetylases (HDACs) have been associated with human malignant tumor development and progression, and HDAC inhibitors are currently being explored as anticancer agents in clinical trials. The present study aimed to evaluate the clinical significance of HDAC-1, HDAC-2, HDAC-4, and HDAC-6 proteins' expression in human malignant and benign thyroid
Giaginis, C. +5 more
openaire +3 more sources
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
HDAC1 inhibition by MS-275 in mesothelial cells limits cellular invasion and promotes MMT reversal [PDF]
, 2018 Peritoneal fibrosis is a pathological alteration of the peritoneal membrane occurring in a variety of conditions including peritoneal dialysis (PD), post-surgery adhesions and peritoneal metastases.
Battistelli, Cecilia +14 more
core +1 more source
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 +5 more
wiley +1 more source
Cancer Management and Research, 2020 Songwei Huan,1,* Tao Gui,1,* Qiutong Xu,1,* Songkuan Zhuang,2 Zhenyan Li,1 Yuling Shi,3 Jiebin Lin,3 Bin Gong,1 Guiqiang Miao,1 Manseng Tam,4 Huan-Tian Zhang,1 Zhengang Zha,1 Chunfei Wu3 1Institute of Orthopedic Diseases and Department of Bone and Joint ...
Huan S +12 more
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