Research Topics
Genomes and Genes
| Ann SaadaSummaryAffiliation: Hadassah University Hospital Country: Israel Publications
| Collaborators
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Detail Information
Publications
The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseasesAnn Saada
Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh, Hadassah Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel
Mol Genet Metab 104:39-47. 2011..Examples and different approaches in the search for treatment options, while using fibroblasts from patients with nuclear encoded OXPHOS defects as model systems, are summarized and discussed...
Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundAnna Golubitzky
Monique and Jacques Roboh Department of Genetic Research, Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
PLoS ONE 6:e26883. 2011....- Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Ann Saada
Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel
J Inherit Metab Dis 35:125-31. 2012..Given the significant 1:290 carrier rate for the p.G250V mutation among Ashkenazi Jews, this mutation should be screened in all Ashkenazi patients with Leigh's syndrome prior to muscle biopsy... - Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiencyAnn Saada
Metabolic Disease Unit, Hadassah Medical Center, Jerusalem 91120, Israel
Mol Genet Metab 95:169-73. 2008..It is suggested that the cytoplasmic deoxycytine kinase supplemented with external substrates may compensate for the deficient dGK... - Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseAnn Saada
Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Am J Hum Genet 84:718-27. 2009..These data not only show that NDUFAF3 mutations cause complex I deficiency but also relate different complex I disease genes by the close cooperation of their encoded proteins during the assembly process... - Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson
Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Am J Hum Genet 83:643-8. 2008..In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted... 
Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiencyAnn Saada
Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
Biochem Biophys Res Commun 310:963-6. 2003..These findings underline the importance of balanced mitochondrial dNTP pools for mtDNA synthesis and may serve as the basis for future therapeutic interventions...- C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada
Metabolic Disease Unit and, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Am J Hum Genet 82:32-8. 2008..These data suggest that C6ORF66 is an assembly factor of complex I. Interestingly, the C6ORF66 gene product was previously shown to promote breast cancer cell invasiveness... - Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutationItai Berger
Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem
Ann Neurol 63:405-8. 2008..Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy... - Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionOrly Elpeleg
Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
Am J Hum Genet 76:1081-6. 2005..Succinyl-CoA synthetase is invariably in a complex with mitochondrial nucleotide diphosphate kinase; hence, we propose that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome... - Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller
Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
Ann Neurol 56:734-8. 2004..A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus... - Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia
Department of Human Genetics and Metabolic Diseases, Hadassah, The Hebrew University Medical Center, Jerusalem, Israel
Am J Hum Genet 85:401-7. 2009..Given that sulfur is a TRMU substrate and its availability is limited during the neonatal period, we propose that there is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure... - Mitochondrial performance in heat acclimation--a lesson from ischemia/reperfusion and calcium overload insults in the heartMiri Assayag
Dept of Medical Neurobiology, Hadassah Medical School, The Hebrew Univ, POB 12272, Jerusalem 91120, Israel
Am J Physiol Regul Integr Comp Physiol 303:R870-81. 2012..LTHA was required for respiratory complex I adaptation and HACT. Stabilized higher basal [Ca(2+)]m and attenuated Ca(2+) overload are likely connected to this adaptation... - mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiencyAnn Saada
Metabolic Disease Unit, Shaare Zedek Medical Center, Post Office Box 3235, IL 91031 Jerusalem, Israel
Mol Genet Metab 79:1-5. 2003..Our results suggest that low basal TK2 activity combined with a high requirement for mitochondrial encoded proteins in muscle predispose this tissue to the devastating effect of TK2 deficiency... - 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylasePhyllis Dan
Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Lipids Health Dis 10:84. 2011.... - The effect of antiepileptic drugs on mitochondrial activity: a pilot studyItai Berger
The Neuro Pediatric Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
J Child Neurol 25:541-5. 2010.... - Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson
Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel
Am J Hum Genet 81:857-62. 2007..We speculate that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery... - Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiencyAnn Saada
Metabolic Disease Unit, Shaare Zedek Medical Center, POB 3235, Jerusalem 91031, Israel
Anal Biochem 335:66-72. 2004..The NADH-ferricyanide reductase assay play a helpful role in directing mutation analysis and identifying patients which are more likely to have their cells amenable for ATP production assessment... - alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disordersEugenia Yakunin
Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Hebrew University, Jerusalem, Israel
J Neurosci Res 88:866-76. 2010..Furthermore, we show that alphaS abnormalities correlate with the altered lipid metabolism and, specifically, with accumulation of long chain, n-6 polyunsaturated fatty acids that occurs in the PBD models... - The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletionChaya Miller
Department of Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel
Biochim Biophys Acta 1812:625-9. 2011..Although results pertain to a cell culture system, the findings might explain the pathomechanism and tissue specificity in mtDNA depletion caused by defective SUCLA2... - Mutations in LPIN1 cause recurrent acute myoglobinuria in childhoodAvraham Zeharia
The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Am J Hum Genet 83:489-94. 2008..Mutations in the LPIN1 gene cause recurrent rhabdomyolysis in childhood, and a carrier state may predispose for statin-induced myopathy... - Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger
Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Mol Genet Metab 104:517-20. 2011..In summary, linkage analysis followed by exome sequencing of a single patient is a cost-effective approach for the identification of disease causing mutations in small non-consanguineous families... - Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 geneEyal Shteyer
The Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Am J Hum Genet 84:412-7. 2009..Mutation analysis of COX4I2 is warranted in patients with malabsorption due to exocrine pancreatic insufficiency and in patients with dyserythropoeitic anemia... - TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiencyMatan Rapoport
Department of Cellular Biochemistry and Human Genetics, Faculty of Medicine, Hebrew University, Jerusalem, Israel
Mol Ther 16:691-7. 2008..We believe that this approach involving TAT-mediated enzyme replacement therapy (ERT) can be applied to the treatment of LAD deficiency as well as to other mitochondrial and metabolic disorders... - Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson
Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Ein Karem, Jerusalem 91120, Israel Professor Luigi Palmieri, Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari 70125, Italy
J Med Genet 50:240-5. 2013..We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic nerve hypoplasia... - Rat cardiac mitochondrial sub-populations show distinct features of oxidative phosphorylation during ischemia, reperfusion and ischemic preconditioningGino A Kurian
Department of Cellular Biochemistry and Human Genetics, The Hebrew University Hadassah Schools of Medicine and Dental Medicine, Jerusalem, Israel
Cell Physiol Biochem 30:83-94. 2012..This study was undertaken to compare functional oxidative phosphorylation (OXPHOS) in IFM and SSM during ischemia, reperfusion and ischemic preconditioning... - Human granulosa luteal cell oxidative phosphorylation function is not affected by age or ovarian responseYoel Shufaro
IVF Unit, Department of Obstetrics and Gynecology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Fertil Steril 98:166-72. 2012..To safely prepare a functional autologous mitochondrial concentrate (MC) from follicular fluid (FF) cells, and to determine the effect of age and ovarian response on the oxidative phosphorylation (OXPHOS)... - Mice deficient in ribosomal protein S6 phosphorylation suffer from muscle weakness that reflects a growth defect and energy deficitIgor Ruvinsky
Department of Biochemistry and Molecular Biology, IMRIC, Hebrew University Hadassah Medical School, Jerusalem, Israel
PLoS ONE 4:e5618. 2009..A relatively passive behavior of these mice has raised the possibility that they suffer from muscle weakness, which has, indeed, been confirmed by a variety of physical performance tests... - l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutationSimon Edvardson
Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Mol Genet Metab 101:228-32. 2010..Similarly, there was an apparent improvement in cognitive function, with significantly increased IQ-scores in the sister and marginal improvement in the brother... - Depletion of the other genome-mitochondrial DNA depletion syndromes in humansOrly Elpeleg
Hebrew University, Faculty of Medicine, Jerusalem, Israel
J Mol Med (Berl) 80:389-96. 2002..We also speculate on future genes to be discovered in other phenotypes of mtDNA depletion... - The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibitionVirginie Loeb
Department of Biochemistry and Molecular Biology, The Institute for Medical Research, Israel Canada, Hebrew University, Jerusalem 91120, Israel
J Biol Chem 285:7334-43. 2010..Based on the results herein, we suggest that alphaS expression negatively regulates complex I activity as part of its normal, physiological role... - Deoxyribonucleotides and disorders of mitochondrial DNA integrityAnn Saada
Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
DNA Cell Biol 23:797-806. 2004..This article reviews the current knowledge of deoxyribonucleotide metabolism in relation to disorders affecting mtDNA integrity...