Results 61 to 70 of about 2,519,227 (189)

Production of sialic acid affected by GNE gene mutations [PDF]

, 2011
Hereditary Inclusion Body Myopathy (HIBM) IS an autosomal recessive disorder characterized by adult onset muscle wasting affecting both proximal and distal muscles.
Shah, Ishita
core  

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Case Reports in Neurological Medicine, 2016
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results.
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan   +7 more
doaj   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

GNE myopathy with premature ovarian failure: Case report and review of the literature

Molecular Genetics and Metabolism Reports
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj   +1 more source

Differenzierung von Wildtyp und GNE-defizienten murinen embryonalen Stammzellen in „Embryoid bodies“ [PDF]

, 2013
Die UDP-N-Acetylglukosamin-2-Epimerase/N-Acetylmannosamin-Kinase (GNE) ist das Schlüsselenzym im Biosyntheseweg der Sialinsäuren. Bei dem Versuch eine GNE-defiziente Maus zu generieren, zeigte sich, dass murine GNE-defiziente Embryonen am Tag 8.5 ...
Hering, Jessica
core   +1 more source

Fluvastatin Plus Dipyridamole Suppresses Canine Hemangiosarcoma Growth in Patient‐Derived Xenograft Models Through Lactate Dehydrogenase‐Associated Cholesterol/Lipid Metabolism

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Tumour cells commonly exhibit aerobic glycolysis and produce lactate despite oxygen availability. Lactate dehydrogenase (LDH) catalyses pyruvate‐lactate interconversion and regulates intracellular lactate levels. Endothelial cells also depend on glycolysis for ATP production, which prompted us to investigate LDH in canine hemangiosarcoma (HSA),
Tamami Suzuki, Suzune Tanaka, Keika Kishimoto, Takuma Goto, Jumpei Yamazaki, Takashi Kimura, Keisuke Aoshima   +6 more
wiley   +1 more source

Integrative analysis of expression profile indicates the ECM receptor and LTP dysfunction in the glioma-related epilepsy

BMC Genomics, 2022
Background Seizures are a common symptom in glioma patients, and they can cause brain dysfunction. However, the mechanism by which glioma-related epilepsy (GRE) causes alterations in brain networks remains elusive.
Zhi-Bin Wang, Jian Qu, Pan Xie, Zhi-Quan Yang, Chen-Xue Mao, Ying Zhang, Zheng-Wen He, Zhuan-Yi Yang, Xiao-Yuan Mao, Zhao-Qian Liu   +9 more
doaj   +1 more source

Genes selection using deep learning and explainable artificial intelligence for chronic lymphocytic leukemia predicting the need and time to therapy

Frontiers in Oncology, 2023
Analyzing gene expression profiles (GEP) through artificial intelligence provides meaningful insight into cancer disease. This study introduces DeepSHAP Autoencoder Filter for Genes Selection (DSAF-GS), a novel deep learning and explainable artificial ...
Fortunato Morabito, Carlo Adornetto, Paola Monti, Adriana Amaro, Francesco Reggiani, Monica Colombo, Yissel Rodriguez-Aldana, Giovanni Tripepi, Graziella D’Arrigo, Claudia Vener, Federica Torricelli, Teresa Rossi, Antonino Neri, Manlio Ferrarini, Giovanna Cutrona, Massimo Gentile, Massimo Gentile, Gianluigi Greco   +17 more
doaj   +1 more source

The assembly of tetrameric human L‐lactate dehydrogenase is regulated by ionic strength, β‐NADH binding, cyclic peptides, and long‐chain dicarboxylates

Protein Science, Volume 35, Issue 10, October 2026.
Abstract Lactate dehydrogenases catalyze the reduction of pyruvate to lactate, the generation of which is of importance for the energetic metabolism of malignant cells. In particular, human cancer cells overexpress lactate dehydrogenase A (hLDH‐A), whose catalytic activity depends on its assembly into the corresponding homotetramer (denoted as hLDH‐5),
Alessandra Stefan, Luca Gentilucci, Alberto Giuseppe Barbiroli, Valentina Rossi, Hang Liao, Giuseppina Di Stefano, Tingting He, Alejandro Hochkoeppler   +7 more
wiley   +1 more source

An Integrated Proteomics and Genomics Approach to Identify Essential Protein Kinases During Human Trophoblast Development

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Integrated quantitative proteomic, phosphoproteomic, and transcriptomic analyses of human trophoblast stem cells identify stage‐specific kinase signaling networks that regulate trophoblast self‐renewal and differentiation into syncytiotrophoblasts and extravillous trophoblasts.
Rajnish Kumar, Purbasa Dasgupta, Soma Ray, Soumen Paul   +3 more
wiley   +1 more source