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Gene & Protein in Disease Amino acid metabolism in neurodegeneration

6. Conclusion doi: 10.1111/nan.12757

This review illuminates the pivotal role of amino acid 3. Yuan L, Guo Y, Wen S, Deng H. Editorial: Genetic and
metabolism in the pathogenesis of neurodegenerative epigenetic basis of neurodegenerative diseases. Front Aging
diseases, highlighting its potential as a therapeutic target. Neurosci. 2022;14:958847.
By analyzing metabolomics data and focusing on the doi: 10.3389/fnagi.2022.958847
mTOR and GCN2-ISR pathways, this work underscores the 4. Hou Y, Dan X, Babbar M, et al. Ageing as a risk factor for
intricate regulatory mechanisms that could be manipulated neurodegenerative disease. Nat Rev Neurol. 2019;15(10):
to mitigate the progression of neurodegenerative disorders. 565-581.
The distinct amino acid profiles observed across various doi: 10.1038/s41582-019-0244-7
diseases not only aid in differential diagnosis but also
present novel biomarkers for clinical application. These 5. Azam S, Haque ME, Balakrishnan R, Kim IS, Choi DK.
The ageing brain: Molecular and cellular basis of
findings open promising avenues for future research and neurodegeneration. Front Cell Dev Biol. 2021;9:683459.
therapeutic strategies, aiming for more personalized and
effective management of neurodegenerative disorders. doi: 10.3389/fcell.2021.683459
6. Madabhushi R, Pan L, Tsai LH. DNA damage and its links to
Acknowledgments neurodegeneration. Neuron. 2014;83(2):266-282.
None. doi: 10.1016/j.neuron.2014.06.034

Funding 7. Soto C, Estrada LD. Protein misfolding and
neurodegeneration. Arch Neurol. 2008;65(2):184-189.
None. doi: 10.1001/archneurol.2007.56

Conflict of interest 8. Yang Z, Klionsky DJ. An overview of the molecular
mechanism of autophagy. Curr Top Microbiol Immunol.
The authors declare that they have no competing interests. 2009;335:1-32.

Author contributions doi: 10.1007/978-3-642-00302-8
Conceptualization: Nikolaos Grigoriadis 9. Nixon RA. The role of autophagy in neurodegenerative
disease. Nat Med. 2013;19(8):983-997.
Writing – original draft: Christina Bitsina
Writing – review & editing: Paschalis Theotokis, Evangelia doi: 10.1038/nm.3232
Kesidou, Iliana Michailidou, Ofira Einstein, Marina 10. Ghavami S, Shojaei S, Yeganeh B, et al. Autophagy and
Boziki, Christos Bakirtzis apoptosis dysfunction in neurodegenerative disorders. Prog
Neurobiol. 2014;112:24-49.
Ethics approval and consent to participate
doi: 10.1016/j.pneurobio.2013.10.004
Not applicable.
11. Saitsu H, Nishimura T, Muramatsu K, et al. De novo
Consent for publication mutations in the autophagy gene WDR45 cause static
encephalopathy of childhood with neurodegeneration in
Not applicable. adulthood. Nat Genet. 2013;45(4):445-449.
doi: 10.1038/ng.2562
Availability of data
12. Martínez-Cué C, Rueda N. Cellular senescence in
Not applicable. neurodegenerative diseases. Front Cell Neurosci. 2020;14:16.

References doi: 10.3389/fncel.2020.00016
1. Johri A, Beal MF. Mitochondrial dysfunction in 13. Hickman S, Izzy S, Sen P, Morsett L, El Khoury J. Microglia
neurodegenerative diseases. J Pharmacol Exp Ther. in neurodegeneration. Nat Neurosci. 2018;21(10):
2012;342(3):619-630. 1359-1369.
doi: 10.1038/s41593-018-0242-x
doi: 10.1124/jpet.112.192138
14. Gao C, Jiang J, Tan Y, Chen S. Microglia in neurodegenerative
2. Murthy M, Cheng YY, Holton JL, Bettencourt C.
Neurodegenerative movement disorders: An epigenetics diseases: Mechanism and potential therapeutic targets.
perspective and promise for the future. Neuropathol Appl Signal Transduct Target Ther. 2023;8(1):359.
Neurobiol. 2021;47(8):897-909. doi: 10.1038/s41392-023-01588-0

Volume 3 Issue 3 (2024) 11 doi: 10.36922/gpd.3294