المؤلفون: Mero, Serena, Salviati, Leonardo, Leuzzi, Vincenzo, Rubegni, Anna, Calderan, Cristina, Nardecchia, Francesca, Galatolo, Daniele, Desbats, Maria Andrea, Naef, Valentina, Gemignani, Federica, Novelli, Maria, Tessa, Alessandra, Battini, Roberta, Santorelli, Filippo M, Marchese, Maria

المساهمون: Mero, Serena, Salviati, Leonardo, Leuzzi, Vincenzo, Rubegni, Anna, Calderan, Cristina, Nardecchia, Francesca, Galatolo, Daniele, Desbats, Maria Andrea, Naef, Valentina, Gemignani, Federica, Novelli, Maria, Tessa, Alessandra, Battini, Roberta, Santorelli, Filippo M, Marchese, Maria

مصطلحات موضوعية: Ataxia, COQ4, CRISPR, Cas9, Yeast complementation assay, Zebrafish, Animal, Fibroblast, Human, Mitochondrial Protein, Muscle Weakne, Muscle, Ubiquinone, Mitochondrial Disease, Neurodevelopmental Disorders

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33704555; info:eu-repo/semantics/altIdentifier/wos/WOS:000627716700005; volume:268; issue:9; firstpage:3381; lastpage:3389; numberofpages:9; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11568/1105276Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102491970

الإتاحة: https://doi.org/10.1007/s00415-021-10509-6Test
https://hdl.handle.net/11568/1105276Test

المؤلفون: Montioli, Riccardo, Desbats, Maria Andrea, Grottelli, Silvia, Doimo, Mara, Bellezza, Ilaria, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

المساهمون: Montioli, Riccardo, Desbats, Maria Andrea, Grottelli, Silvia, Doimo, Mara, Bellezza, Ilaria, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

مصطلحات موضوعية: Ornithine aminotransferase, Pathogenic mutation, Pyridoxal phosphate, Pyridoxine, Rare disease, CRISPR-Cas System, Coenzyme, Enzyme Assay, Gene Knockout Technique, Gyrate Atrophy, HEK293 Cell, Holoenzyme, Human, Mutagenesis, Site-Directed, Ornithine-Oxo-Acid Transaminase, Point Mutation, Protein Aggregation, Pathological, Recombinant Protein, Treatment Outcome, Vitamin B Complex, Molecular Medicine, Molecular Biology

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30251682; info:eu-repo/semantics/altIdentifier/wos/WOS:000447477400007; volume:1864; issue:11; firstpage:3629; lastpage:3638; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE; http://hdl.handle.net/11391/1441863Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052646089; www.elsevier.com/locate/bbadis

الإتاحة: https://doi.org/10.1016/j.bbadis.2018.08.032Test
http://hdl.handle.net/11391/1441863Test

المؤلفون: Thomas, María Gabriela, Martínez Tosar, Leandro Julián, Desbats, María Andrea, Boccaccio, Graciela Lidia

مصطلحات موضوعية: ER stress, Oxidative stress, P bodies, Silencing foci, Staufen, Stress granules, initiation factor 2alpha, RNA binding protein, staufen 1, unclassified drug, enzyme inhibitor, heat shock protein 70, initiation factor 2, small interfering RNA, staufen protein, mammalian, thapsigargin, animal cell, article, cell granule, cellular stress response, controlled study, endoplasmic reticulum stress, gene overexpression, gene silencing, human, human cell, nonhuman, polysome, priority journal

العلاقة: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00219533_v122_n4_p563_ThomasTest; http://hdl.handle.net/20.500.12110/paper_00219533_v122_n4_p563_ThomasTest

الإتاحة: https://doi.org/20.500.12110/paper_00219533_v122_n4_p563_ThomasTest
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00219533_v122_n4_p563_ThomasTest
https://hdl.handle.net/20.500.12110/paper_00219533_v122_n4_p563_ThomasTest