المؤلفون: Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou

المصدر: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101158- (2024)

مصطلحات موضوعية: Cobalamin, CblC, Methylmalonic aciduria, Homocystinuria, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924001113; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/7f951476c3c046ca93de03b375035e83

المؤلفون: Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: DPYD, Dihydropyrimidine dehydrogenase, Fluoropyrimidines, Copy number variants, Deletion, Toxicity, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/433b40107103409f83ac2d77f6e8a618

المؤلفون: Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou

المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)

مصطلحات موضوعية: Inherited metabolic disorders, Inborn errors of metabolism, Selective screening, Registry, Prevalence, Cyprus, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000363; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6bd5436426fd421e948f26520ed12247

المؤلفون: Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)

مصطلحات موضوعية: Glycogen storage disorder, Pompe disease, Exome sequencing, Case report, Variants, Acid alpha glucosidase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000435; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1393d2d27d9e4b658ab162df0508fc9f

المؤلفون: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: Cypriot, deep intronic mutation, Gaucher disease, GBA, glucocerebrosidase, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3

المؤلفون: Kalia Kyriakou, Carsten W. Lederer, Marina Kleanthous, Anthi Drousiotou, Anna Malekkou

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 5; Pages: 1607

مصطلحات موضوعية: acid ceramidase, SH-SY5Y, neurites, ceramide, lipidomics, Rho GTPases, LAMP1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21051607

الاتاحة: https://doi.org/10.3390/ijms21051607

المؤلفون: Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou

المصدر: International Journal of Molecular Sciences; Volume 19; Issue 10; Pages: 3099

مصطلحات موضوعية: GBA2, non-lysosomal β-glucosylceramidase, β-glucocerebrosidase, spastic ataxia, glucosylceramide, plasma membrane, lymphoblastoid cell lines

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Bioactives and Nutraceuticals; https://dx.doi.org/10.3390/ijms19103099

الاتاحة: https://doi.org/10.3390/ijms19103099

المؤلفون: Anthi Drousiotou, Marina Kleanthous, Anna Malekkou, Kalia Kyriakou, Carsten W. Lederer

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 5, p 1607 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 5

مصطلحات موضوعية: Myoclonus, rho GTP-Binding Proteins, RHOA, SH-SY5Y, Transcription, Genetic, Apoptosis, neurites, lcsh:Chemistry, Neuroblastoma, 0302 clinical medicine, rho gtpases, Homeostasis, lcsh:QH301-705.5, Spectroscopy, 0303 health sciences, Farber disease, biology, Chemistry, General Medicine, Computer Science Applications, Cell biology, medicine.anatomical_structure, Gene Knockdown Techniques, ASAH1, sh-sy5y, Cell Survival, RAC1, Ceramides, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Cell Line, Tumor, Lysosome, medicine, Humans, RNA, Messenger, ceramide, Physical and Theoretical Chemistry, Molecular Biology, 030304 developmental biology, Sphingolipids, Organic Chemistry, acid ceramidase, Lysosome-Associated Membrane Glycoproteins, Cell Cycle Checkpoints, medicine.disease, Sphingolipid, Distal Myopathies, Lysosomal Storage Diseases, Acid Ceramidase, Farber Lipogranulomatosis, lcsh:Biology (General), lcsh:QD1-999, Mutation, biology.protein, lipidomics, Lysosomes, Transcriptome, lamp1, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89424b1d7167cd608a6cf36bf28bfa2a
https://www.mdpi.com/1422-0067/21/5/1607

المؤلفون: Niovi Santama, Nikos G. Oikonomakos, Angus I. Lamond, Christina E. Drakou, Carsten W. Lederer, Anna Malekkou, Joseph Hayes, Spyros E. Zographos, Demetres D. Leonidas

المصدر: Proteins: Structure, Function, and Bioinformatics. 80:206-220

مصطلحات موضوعية: 0303 health sciences, biology, ATPase, 030302 biochemistry & molecular biology, Adenylate kinase, Biochemistry, Cell biology, 03 medical and health sciences, Cell nucleus, medicine.anatomical_structure, Cajal body, Structural Biology, medicine, biology.protein, Coilin, Nuclear protein, Molecular Biology, Ternary complex, Cellular localization, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d25fd3c1f7c003ec28bf413c984bd9c3
https://doi.org/10.1002/prot.23186