Results 41 to 50 of about 1,590 (147)

Additional file 1: of Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity

, 2019
Figure S1. CCL5 and CXCL10 expression in LUAD cells with GBE1 overexpression. (A) Western blotting analysis and (B) the statistical analysis confirms GBE1 overexpression in A549 cells compared to negative control cells.
Yi Zhang (9093), Zijia Zhu (6863957), Dong Wang (73290), Feng Li (30515), Yujia Zheng (6716096), Wenhua Xue (6158285), Jingyao Lian (3900757), Jie Zhao (49409), Lifeng Li (3289017), Zhirui Fan (6158288), Zhibo Shen (5106995), Li Yang (6520), Shiqi Cheng (6863954), Kai Zhang (102844), Dan Wang (34472)   +14 more
core   +1 more source

GBE1 Inhibition: Alternative Therapy for Lung Cancer by Altering Glucose Metabolism [PDF]

Lung cancer represents a neoplastic malignancy within pulmonary tissue and is associated with the highest mortality rate attributed to cancer globally. Non-Small Cell Lung Cancer (NSCLC) constitutes the predominant category of lung cancer, accounting for
Istiqomah, Anisa, Ari Pujianto, Dwi, Ariani, Yulia   +2 more
core   +1 more source

The zinc transporter, Slc39a7 (Zip7) is implicated in glycaemic control in skeletal muscle cells.

PLoS ONE, 2013
Dysfunctional zinc signaling is implicated in disease processes including cardiovascular disease, Alzheimer's disease and diabetes. Of the twenty-four mammalian zinc transporters, ZIP7 has been identified as an important mediator of the 'zinc wave' and ...
Stephen A Myers, Alex Nield, Guat-Siew Chew, Mark A Myers   +3 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

RNA‐Binding Proteins: Function, Biological Mechanisms, and Therapeutic Opportunities

MedComm, Volume 7, Issue 9, September 2026.
RNA‐binding proteins (RBPs) regulate RNA stability, localization, translation, and splicing through intrinsic binding domains and interactions with diverse cellular partners. Their competitive and cooperative networks shape disease‐related RNA programs, especially in cancer.
Ling Li, Xiuli Yan, Qing Ji, Hui Zhang
wiley   +1 more source

Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. [PDF]

PLoS ONE, 2010
When oxygen becomes limiting, cells reduce mitochondrial respiration and increase ATP production through anaerobic fermentation of glucose. The Hypoxia Inducible Factors (HIFs) play a key role in this metabolic shift by regulating the transcription of ...
Nuria Pescador, Diego Villar, Daniel Cifuentes, Mar Garcia-Rocha, Amaya Ortiz-Barahona, Silvia Vazquez, Angel Ordoñez, Yolanda Cuevas, David Saez-Morales, Maria Laura Garcia-Bermejo, Manuel O Landazuri, Joan Guinovart, Luis del Peso   +12 more
doaj   +1 more source

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia. [PDF]

J Clin Med
Background and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes.
Latif M, Hashmi JA, Alayoubi AM, Ayub A, Basit S.   +4 more
europepmc   +2 more sources

Assessing the therapeutic potential of PDE‐5 inhibitors in adults: Insights from a multi‐omics study

Physiological Reports, Volume 14, Issue 18, September 2026.
Abstract Phosphodiesterase‐5 inhibitors have beneficial pleiotropic effects and hold promise as adjuvant treatments for cancer, dementia, and other disorders. Sixteen men and women aged 50–60 were administered daily sildenafil/tadalafil for 1 month. We characterized molecular signatures of sildenafil/tadalafil treatment via analyses and multi‐omics ...
Kristen A. McGovern, Traver J. Wright, Erik D. Marchant, Sean P. Kilroe, William J. Durham, E. Lichar Dillon, Marc M. Baum, Michael P. Kinsky, William K. Russell, Christopher S. Fry, Pratik Gongloor, Richard B. Pyles, Randall J. Urban, Blake B. Rasmussen, Melinda Sheffield‐Moore   +14 more
wiley   +1 more source

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease.

, 2014
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD).
Lucà R, Lombardi L, LUCA', ROBERTA, ROPERTO, FRANCO PEPPINO, DI IORIO, GIUSEPPE, Napolitano F, SAMPAOLO, SIMONE, Esposito T, Gianfrancesco F, Roperto F   +9 more
core   +1 more source

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

, 2014
Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme.
Li, Sing-Chung;Hwu, Wuh-Liang;Lin, Ju-Li;Bali, Deeksha S.;Yang, Chen;Chu, Shih-Ming;Chien, Yin-Hsiu;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien;Chen, Yuan-Tsong;Lee, Ni-Chung, 胡務亮 ;謝武勳 ;李妮鍾 ;簡穎秀   +1 more
core   +2 more sources