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dc.contributor.authorChandel, Navdeep
dc.contributor.authorIdrisoglu, Halil
dc.contributor.authorBongioanni, Paolo
dc.contributor.authorBattini, Roberta
dc.contributor.authorOzdinler, P. Hande
dc.contributor.authorGautam, Mukesh
dc.contributor.authorCarratore, Renata Del
dc.contributor.authorHelmold, Benjamin
dc.contributor.authorTessa, Alessandra
dc.contributor.authorGozutok, Oge
dc.date.accessioned2022-07-04T14:41:12Z
dc.date.available2022-07-04T14:41:12Z
dc.date.issued2022
dc.identifier.citationGautam M., Carratore R. D. , Helmold B., Tessa A., Gozutok O., Chandel N., Idrisoglu H., Bongioanni P., Battini R., Ozdinler P. H. , "2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma", METABOLITES, cilt.12, sa.2, 2022
dc.identifier.issn2218-1989
dc.identifier.otherav_871d7a3f-db55-4380-b3d3-a0d90e361519
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/183592
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/871d7a3f-db55-4380-b3d3-a0d90e361519/file
dc.identifier.urihttps://doi.org/10.3390/metabo12020174
dc.description.abstractPathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an immense need to reveal the underlying causes of the disease and to identify potential biomarkers. To shed light onto the metabolomic events that are perturbed with respect to ALS2 mutations, we investigated the metabolites present in the serum and plasma of a three-year-old female patient (AO) harboring pathogenic variants in ALS2, together with her relatives, healthy male and female controls, as well as another two-year-old patient DH, who had mutations at different locations and domains of ALS2. Serum and plasma samples were analyzed with a quantitative metabolomic approach to reveal the identity of metabolites present in serum and plasma. This study not only shed light onto the perturbed cellular pathways, but also began to reveal the presence of a distinct set of key metabolites that are selectively present or absent with respect to ALS2 mutations, laying the foundation for utilizing metabolites as potential biomarkers for a subset of ALS.
dc.language.isoeng
dc.subjectStructural Biology
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectClinical Biochemistry
dc.subjectCancer Research
dc.subjectMolecular Biology
dc.subjectDrug Discovery
dc.subjectAging
dc.subjectGeneral Biochemistry, Genetics and Molecular Biology
dc.subjectBiochemistry
dc.subjectLife Sciences
dc.title2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma
dc.typeMakale
dc.relation.journalMETABOLITES
dc.contributor.departmentNorthwestern State University of Louisiana , ,
dc.identifier.volume12
dc.identifier.issue2
dc.contributor.firstauthorID3401763


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