Results 11 to 20 of about 4,820 (182)

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

Human Genetics and Genomics Advances
Summary: Bi-allelic variants in GLUL, encoding glutamine synthetase and responsible for the conversion of glutamate to glutamine, are associated with a severe recessive disease due to glutamine deficiency.
Anne O'Donnell-Luria, Heidi L Rehm, Vijay Ganesh   +2 more
exaly   +7 more sources

GLUL rs10911021 polymorphism and risk of coronary artery disease among Egyptian individuals [PDF]

Bulletin of the National Research Centre, 2019
Background Genome-wide association studies have identified novel genes related to coronary artery disease (CAD). These studies have been replicated in distinct ethnic populations, returning inconsistent results. Our work aimed to study the frequency of C
Rasha Nazih Yousef, Solaf Ahmed Kamel, Nehal Salah Hasan, Mona Awad, Hesham Gamal, Nevine Ibrahim Musa, Mona Hamed Farag   +6 more
doaj   +4 more sources

PHF8-GLUL axis in lipid deposition and tumor growth of clear cell renal cell carcinoma [PDF]

Science Advances, 2023
For clear cell renal cell carcinoma (ccRCC), lipid deposition plays important roles in the development, metastasis, and drug resistance. However, the molecular mechanisms underlying lipid deposition in ccRCC remain largely unknown. By conducting an unbiased CRISPR-Cas9 screening, we identified the epigenetic regulator plant homeodomain ...
Song Peng, Ze Wang, Peng Tang, Shuo Wang, Yiqiang Huang, Qiubo Xie, Yapeng Wang, Xintao Tan, Tang Tang, Xuzhi Yan, Jing Xu, Weihua Lan, Luofu Wang, Dianzheng Zhang, Bin Wang, Tiejun Pan, Jun Qin, Jun Jiang, Qiuli Liu   +18 more
core   +6 more sources

Immunohistochemical localisation of Glutamate ammonia ligase (GLUL) in cerebrum in different clinical forms of canine rabies [PDF]

Journal of Veterinary and Animal Sciences, 2023
Rabies, one of the earliest known diseases reported in the history of mankind, is a fatal acute viral disease of the central nervous system. Despite numerous studies on etiology of rabies, its exact mechanism of neuropathogenesis remains unidentified ...
P. Nikhithasree , C. Divya, M.L. Arya Nair, K. Krithiga, K.S. Prasanna , Lali F. Anand, John Bernet Johnson   +6 more
doaj   +3 more sources

Glutamine production by Glul promotes thermogenic adipocyte differentiation through Prdm9-mediated H3K4me3 and transcriptional reprogramming [PDF]

Diabetes, 2023
Thermogenic adipocytes have been extensively investigated because of their energy-dissipating property and therapeutic potential for obesity and diabetes. Besides serving as fuel sources, accumulating evidence suggests that intermediate metabolites play critical roles in multiple biological processes.
Xiaowen Pan, Lingxia Ye, Xiaozhen Guo, Weihua Wang, Ziyin Zhang, Qintao Wang, Jingjing Huang, Jingya Xu, Yanhan Cai, Xinxin Shou, Yuting Wang, Yu Ying Feng, Cen Xie, Peng‐Fei Shan, Zhuo‐Xian Meng   +14 more
core   +6 more sources

Hepatoblastoma: glutamine depletion hinders cell viability in the embryonal subtype but high GLUL expression is associated with better overall survival [PDF]

Journal of Cancer Research and Clinical Oncology, 2021
Abstract Purpose Glutamine plays an important role in cell viability and growth of various tumors. For the fetal subtype of hepatoblastoma, growth inhibition through glutamine depletion was shown. We studied glutamine depletion in embryonal cell lines of hepatoblastoma carrying different mutations.
Andreas Schmidt, Angela Armento, Ovidio Bussolati, Martina Chiu, Verena Ellerkamp, Marcus Oliver Scharpf, Philip Sander, Evi Schmid, Steven Walter Warmann, Jörg Fuchs   +9 more
core   +6 more sources

A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces. [PDF]

Hum Mutat
Two clinical phenotypes are associated with GLUL mutations, from different inheritance mode. Recessive forms are associated with congenital glutamine deficiency, manifesting with severe brain malformation, multiorgan failure, and early death.
Wu T, He F, Ni X, Yin F, Peng J.
europepmc   +3 more sources

GLUL gene knockdown and restricted glucose level show synergistic inhibitory effect on the luminal subtype breast cancer MCF7 cells’ proliferation and metastasis [PDF]

EXCLI Journal : Experimental and Clinical Sciences, 2023
The glutamine synthetase path is one of the most important metabolic pathways in luminal breast cancer cells, which plays a critical role in supplying glutamine as an intermediate in the biosynthesis of amino acids and nucleotides.
Arezu Karimpur Zahmatkesh, Mohammad Khalaj-Kondori, Mohammad Ali Hosseinpour Feizi, Behzad Baradaran   +3 more
doaj   +2 more sources

SIRT6-GLUL axis: rewiring nitrogen metabolism in intrahepatic cholangiocarcinoma. [PDF]

Gut
Zhou H, Li H, Wu N, Calvisi DF.
europepmc   +5 more sources

GLUL mediates FOXO3 O-GlcNAcylation to regulate the osteogenic differentiation of BMSCs and senile osteoporosis. [PDF]

Cell Death Differ
Abstract The abnormal osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) is an important cause of senile osteoporosis (SOP). Glutamine synthetase (GLUL) is a key enzyme in glutamine biosynthesis; however, its functional role in SOP remains unclear.
Zhang L, Qi B, Li Y, Liang X, Zhang Z, Yang T, Jia S, Gao X, Chen S, Jiao G, Li Y, Zhou H, Chen Y, Li Y, Zhang B, Li G, Meng C.   +16 more
europepmc   +5 more sources