Results 301 to 310 of about 9,815,793 (361)

The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription

Advanced Science, EarlyView.
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma, Yingyi Zhang, Weijie Yang, Xiaomei Tong, Siya Liu, Yan Zhou, Mengjia Qiu, Huifang Jiang, Zhanhong Hu, Peipei Ren, Yan Rong, Mengru Lai, Jiamin Jin, Fei Huang, Liujian Ouyang, Feng Zhou, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +18 more
wiley   +1 more source

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. [PDF]

J Neurol
Ferreira T, Polavarapu K, Olimpio C, Paramonov I, Lochmüller H, Horvath R.   +5 more
europepmc   +1 more source

Neuraminidase 1 Exacerbated Glycolytic Dysregulation and Cardiotoxicity by Destabilizing SIRT1 through Interactions with NRF2 and HIF1α

Advanced Science, EarlyView.
NEU1, a key regulator of glycolysis, is markedly upregulated following DOX treatment. This upregulation is attributed to HIF1α’s transcriptional repression, requiring intricate interactions with NRF2. Increased NEU1 facilitates SIRT1 lysosomal degradation, contributing to aberrant glycolytic phenotype and cardiac damage.
Ting Gao, Yufeng Tang, Tao Zeng, Jie Wang, Xiaohui Zhang, Qingbo Liu, Xun Guan, Xinyu Tang, Guangping Lu, Jiahao Li, Mingrui Liu, Dongmei Zhang, Sixuan Lv, Junlian Gu   +13 more
wiley   +1 more source

Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients. [PDF]

J Neurol
Indelicato E, Schlieben LD, Stenton SL, Boesch S, Skorvanek M, Necpal J, Jech R, Winkelmann J, Prokisch H, Zech M.   +9 more
europepmc   +1 more source

Isoquercitrin Alleviates Diabetic Nephropathy by Inhibiting STAT3 Phosphorylation and Dimerization

Advanced Science, EarlyView.
This study identified a natural compound, isoquercitrin, which significantly alleviated kidney inflammation and fibrosis by inhibiting STAT3 activity. Isoquercitrin forms a strong, noncovalent bond that directly binds to STAT3. Isoquercitrin binds to the pY+1 pocket of the SH2 domain of STAT3 via hydrogen bonding with Ser668, Gln635, and Gln633 ...
Chen Xuan, Donghui Chen, Shuangna Zhang, Chaofan Li, Qingyun Fang, Dinghua Chen, Jiabao Liu, Xin Jiang, Yingjie Zhang, Wanjun Shen, Guangyan Cai, Xiangmei Chen, Ping Li   +12 more
wiley   +1 more source

Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology. [PDF]

Int J Mol Sci
Neuhofer CM, Prokisch H.
europepmc   +1 more source

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. [PDF]

Nutrients
Wesół-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczyńska-Seliga E, Hajdacka M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A, Rokicki D.   +11 more
europepmc   +1 more source

Emerging Multi-omic Approaches to the Molecular Diagnosis of Mitochondrial Disease and Available Strategies for Treatment and Prevention. [PDF]

Curr Genomics
Khaghani F, Hemmati M, Ebrahimi M, Salmaninejad A.   +3 more
europepmc   +1 more source

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. [PDF]

J Pers Med
Heath O, Hammerl E, Spitzinger A, Wortmann SB.   +3 more
europepmc   +1 more source

Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease

Menacho C, Okawa S, Álvarez-Merz I, Wittich A, Muñoz-Oreja M, Lisowski P, Pentimalli TM, Rybak-Wolf A, Inak G, Zakin S, Thevandavakkam M, Petersilie L, Zaliani A, Mlody B, Seibt A, Donnelly J, Woleben K, Fernandez-Checa J, Herebian D, Mayatepek E, Rajewsky N, Spinazzola A, Schuelke M, Perlstein E, Rossi A, Distelmaier F, Holt IJ, Pless O, Rose CR, Del Sol A, Prigione A.   +30 more
europepmc   +1 more source