Results 201 to 210 of about 992,778 (259)

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Human cytomegalovirus regulates host DNA repair machinery for viral genome integrity. [PDF]

Nucleic Acids Res
Longmire P, Zeltzer S, Zarrella K, Daigle O, Svoboda M, Reitsma JM, Terhune SS, Bobak C, Bosco G, Goodrum F.   +9 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Evidence for improved DNA repair in the long-lived bowhead whale. [PDF]

Nature
Firsanov D, Zacher M, Tian X, Sformo TL, Zhao Y, Tombline G, Lu JY, Zheng Z, Perelli L, Gurreri E, Zhang L, Guo J, Korotkov A, Volobaev V, Biashad SA, Zhang Z, Heid J, Maslov AY, Sun S, Wu Z, Gigas J, Hillpot EC, Martinez JC, Lee M, Williams A, Gilman A, Hamilton N, Strelkova E, Haseljic E, Patel A, Straight ME, Miller N, Ablaeva J, Tam LM, Couderc C, Hoopmann MR, Moritz RL, Fujii S, Pelletier A, Hayman DJ, Liu H, Cai Y, Leung AKL, Zhang Z, Nelson CB, Abegglen LM, Schiffman JD, Gladyshev VN, Maley CC, Modesti M, Genovese G, Simons MJP, Vijg J, Seluanov A, Gorbunova V.   +54 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Finely-tuned regulator of DNA repair: FBXW7-185aa may modulate glioblastoma radiosensitization and the tumor immune microenvironment. [PDF]

Transl Oncol
Li Z, Hu N, Zhou S, Guo X, Yang Z, Jing Z, Li H, Tao Y, Hu W, Liang W, Li J, Lyu Y, Fu X, Wang X.   +13 more
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +15 more
wiley   +1 more source

AMPK phosphorylates WIP1 to promote DNA repair and radioresistance in cancer cells. [PDF]

Cell Death Dis
Lu M, Dong X, Wu C, Wang G, Wang H, Pan Y, Qin Y, Song Y, Pan H, Liu S, Zhang K, Zhang X, Qu J, Yang Z.   +13 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

LMNA-PRKDC axis enhances DNA repair and promotes chemoresistance in glioblastoma. [PDF]

Cell Death Dis
Saathoff MR, Chojak R, Chen RX, Kazi HA, Faisal UH, Shireman JM, Drewes N, Park CH, Fan X, Khan SA, Lazanyi I, Baisiwala S, James CD, Horbinski CM, Ahmed AU.   +14 more
europepmc   +1 more source