Associated Papers
Generation of the ICGi019-B-1 and ICGi019-B-2 lines via correction of the p.Met659Ile (c.1977G>A) variant in MYH7 of patient-specific induced pluripotent stem cells using CRISPR/Cas9.
Shulgina AE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Neanderthal and Denisovan Glutamate Dehydrogenase 2 Evolution and Clinical Significance.
Aleshina YA et al.
International Journal of Molecular Sciences, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
The role of glutamate dehydrogenase in the ageing brain.
Zhou T et al.
Frontiers in Pharmacology, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Npj Parkinson's Disease, 2024
Exploring the interplay between metabolomics and genetics in Parkinson's disease: Insights from ongoing research and future avenues.
Santos-Rebouças CB et al.
Mechanisms of Ageing and Development, 2023
Glutamate dehydrogenase: Potential therapeutic targets for neurodegenerative disease.
Pan C et al.
European Journal of Pharmacology, 2023
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Research Square, 2023
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort.
Mathioudakis L et al.
Neurobiology of Aging, 2023
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease.
Zhang W et al.
Cell Death & Disease, 2020
PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes.
Gotoh N et al.
European Journal of Haematology, 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Localization of Human Glutamate Dehydrogenases Provides Insights into Their Metabolic Role and Their Involvement in Disease Processes.
Mathioudakis L et al.
Neurochemical Research, 2019
Multiple Forms of Glutamate Dehydrogenase in Animals: Structural Determinants and Physiological Implications.
Bunik V et al.
Biology, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
The discovery of human of GLUD2 glutamate dehydrogenase and its implications for cell function in health and disease.
Shashidharan P et al.
Neurochemical Research, 2014
Deregulation of glutamate dehydrogenase in human neurologic disorders.
Plaitakis A et al.
Journal of Neuroscience Research, 2013
The human GLUD2 glutamate dehydrogenase and its regulation in health and disease.
Plaitakis A et al.
Neurochemistry International, 2011
Estrogen modification of human glutamate dehydrogenases is linked to enzyme activation state.
Borompokas N et al.
The Journal of Biological Chemistry, 2010
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset.
Plaitakis A et al.
European Journal of Human Genetics : Ejhg, 2010
The human GLUD2 glutamate dehydrogenase: localization and functional aspects.
Zaganas I et al.
Neurochemistry International, 0