A
Ann Saada
Researcher at Hebrew University of Jerusalem
Publications - 170
Citations - 9707
Ann Saada is an academic researcher from Hebrew University of Jerusalem. The author has contributed to research in topics: Mitochondrion & Mitochondrial respiratory chain. The author has an hindex of 51, co-authored 159 publications receiving 8636 citations. Previous affiliations of Ann Saada include Soroka Medical Center & Hadassah Medical Center.
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Journal ArticleDOI
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
TL;DR: Mutations in TK2 represent a new etiology for mitochondrial DNA depletion, underscoring the importance of the mitochondrial dNTP pool in the pathogenesis of mitochondrial depletion.
Journal ArticleDOI
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Hanna Mandel,Raymonde Szargel,Valentina Labay,Orly Elpeleg,Ann Saada,Adel Shalata,Yefim Anbinder,Drora Berkowitz,Corina Hartman,Mila Barak,Staffan Eriksson,Nadine Cohen +11 more
TL;DR: The association of mtDNA depletion with mutated DGUOK suggests that the salvage-pathway enzymes are involved in the maintenance of balanced mitochondrial dNTP pools.
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Deleterious Mutation in the Mitochondrial Arginyl-Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson,Avraham Shaag,Olga Kolesnikova,John M. Gomori,Ivan Tarassov,Tom Einbinder,Ann Saada,Orly Elpeleg +7 more
TL;DR: It is speculated that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery.
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Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
Orly Elpeleg,Orly Elpeleg,Chaya Miller,Eli Hershkovitz,Maria Bitner-Glindzicz,Gili Bondi-Rubinstein,Shamima Rahman,Alistair T. Pagnamenta,Sharon Eshhar,Ann Saada +9 more
TL;DR: It is proposed that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome.
Journal ArticleDOI
Control of Pancreatic β Cell Regeneration by Glucose Metabolism
Shay Porat,Noa Weinberg-Corem,Sharona Tornovsky-Babaey,Rachel Schyr-Ben-Haroush,Ayat Hija,Miri Stolovich-Rain,Daniela Dadon,Zvi Granot,Vered Ben-Hur,Peter White,Christophe Girard,Rotem Karni,Klaus H. Kaestner,Frances M. Ashcroft,Mark A. Magnuson,Ann Saada,Joseph Grimsby,Benjamin Glaser,Yuval Dor +18 more
TL;DR: Intracellularly, genetic and pharmacologic manipulations reveal that glucose induces β cell replication via metabolism by glucokinase, the first step of glycolysis, followed by closure of K(ATP) channels and membrane depolarization, providing a molecular mechanism for homeostatic control of β cell mass by metabolic demand.