المؤلفون: Iliana López-Soldado, Adrian Gabriel Torres, Raúl Ventura, Inma Martínez-Ruiz, Angels Díaz-Ramos, Evarist Planet, Diane Cooper, Agnieszka Pazderska, Krzysztof Wanic, Declan O'Hanlon, Donal J. O'Gorman, Teresa Carbonell, Lluís Ribas de Pouplana, John J. Nolan, Antonio Zorzano, María Isabel Hernández-Alvarez

المصدر: Redox Biology, Vol 61, Iss , Pp 102630- (2023)

مصطلحات موضوعية: Type 2 diabetes, Mitochondrial aminoacyl tRNA synthetases, Nitrosative stress, OXPHOS, Skeletal muscle, Nitric oxide, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213231723000319; https://doaj.org/toc/2213-2317

URL الوصول: https://doaj.org/article/c53b67421abe4c1cbd8be5c09028244b

المؤلفون: Amena Smith Fine, Christina L. Nemeth, Miriam L. Kaufman, Ali Fatemi

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Leukodystrophy, Mitochondrial aminoacyl-tRNA synthetases, DARS2, LBSL, EARS2, LTBL AARS2, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/7ca3c8f0f7e1417da7bb60e3a2e38c0b

المؤلفون: Sonia Figuccia, Rossella Izzo, Andrea Legati, Alessia Nasca, Paola Goffrini, Daniele Ghezzi, Camilla Ceccatelli Berti

المساهمون: Figuccia, Sonia, Izzo, Rossella, Legati, Andrea, Nasca, Alessia, Goffrini, Paola, Ghezzi, Daniele, CECCATELLI BERTI, Camilla

مصطلحات موضوعية: mitochondrial aminoacyl-tRNA synthetases, yeast model, novel variants, mitochondrial diseases

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001304114100001; volume:33; issue:18; firstpage:1630; lastpage:1641; numberofpages:12; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11381/3002233

الاتاحة: https://hdl.handle.net/11381/3002233
https://doi.org/10.1093/hmg/ddae104

المؤلفون: Sonia Figuccia, Andrea Degiorgi, Camilla Ceccatelli Berti, Enrico Baruffini, Cristina Dallabona, Paola Goffrini

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 9; Pages: 4524

مصطلحات موضوعية: mitochondrial aminoacyl-tRNA synthetases, yeast model, novel variants, mitochondrial diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms22094524

الاتاحة: https://doi.org/10.3390/ijms22094524

المؤلفون: Figuccia, Sonia

المساهمون: Goffrini, Paola

مصطلحات موضوعية: mitochondrial aminoacyl-tRNA synthetases, yeast model, novel variants, mitochondrial diseases, pantothenate kinase, PKAN, genetic complementation, BIO/18

وصف الملف: application/pdf

Relation: Dottorato di ricerca in Biotecnologie e bioscienze; https://hdl.handle.net/1889/5365

الاتاحة: https://hdl.handle.net/1889/5365

المؤلفون: Paola Goffrini, Enrico Baruffini, Sonia Figuccia, Camilla Ceccatelli Berti, Andrea Degiorgi, Cristina Dallabona

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 4524, p 4524 (2021)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, QH301-705.5, Mitochondrial translation, Respiratory chain, Saccharomyces cerevisiae, Review, Biology, Mitochondrion, DNA, Mitochondrial, Catalysis, Oxidative Phosphorylation, Inorganic Chemistry, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cytosol, RNA, Transfer, Humans, mitochondrial aminoacyl-tRNA synthetases, Biology (General), Physical and Theoretical Chemistry, RNA Processing, Post-Transcriptional, QD1-999, Molecular Biology, Gene, Spectroscopy, Genetics, mitochondrial diseases, novel variants, Aminoacyl tRNA synthetase, Organic Chemistry, Translation (biology), yeast model, General Medicine, Heteroplasmy, Computer Science Applications, Mitochondria, Chemistry, 030104 developmental biology, chemistry, Protein Biosynthesis, Mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee07e341b96b9ef9ca9dbd7edb6b804
https://pubmed.ncbi.nlm.nih.gov/33926074

المؤلفون: Umberto Ambrosetti, Pierangela Castorina, Sonia Caccia, Rosanna Asselta, Chiara Chiereghin, M. Robusto, Stefano Duga, Giulia Soldà

المصدر: Journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hearing Loss, Sensorineural, Biology, Compound heterozygosity, Article, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Molecular genetics, Genetics, medicine, Humans, Missense mutation, Exome, whole-exome sequencing, mitochondrial aminoacyl-tRNA synthetases, Peroxisomal Multifunctional Protein-2, Gene, Genetics (clinical), Exome sequencing, Perrault syndrome, Genetic heterogeneity, DNA Helicases, LARS2, High-Throughput Nucleotide Sequencing, Endopeptidase Clp, mutations, Gonadal Dysgenesis, 46,XX, Pedigree, 030104 developmental biology, Italy, Mutation, Medical genetics, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a795b8881d3dd047dfccf8962457f06c
https://doi.org/10.1038/jhg.2015.149