Publications by authors named "Ann Saada"

100Publications

Treatment of ErbB2 breast cancer by mitochondrial targeting.

Cancer Metab 2020 14;8:17. Epub 2020 Jul 14.

Dept of Human Nutrition and Metabolism, Hebrew University Medical School, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1186/s40170-020-00223-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362624PMC
July 2020

Biochemical assays of TCA cycle and β-oxidation metabolites.

Methods Cell Biol 2020 21;155:83-120. Epub 2020 Jan 21.

Faculty of Medicine, Hebrew University of Jerusalem, Metabolic Laboratory, Department of Genetic & Metabolic Diseases, Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/bs.mcb.2019.11.021DOI Listing
January 2020

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.

Cells 2020 01 27;9(2). Epub 2020 Jan 27.

Department of Genetic and Metabolic Diseases and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Jerusalem 9112001, Israel.

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http://dx.doi.org/10.3390/cells9020301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072316PMC
January 2020

Mitochondrial Transfer Ameliorates Cognitive Deficits, Neuronal Loss, and Gliosis in Alzheimer's Disease Mice.

J Alzheimers Dis 2019 ;72(2):587-604

Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University medical center, Jerusalem, Israel.

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http://dx.doi.org/10.3233/JAD-190853DOI Listing
November 2020

Insights into deoxyribonucleoside therapy for mitochondrial TK2 deficient mtDNA depletion.

Authors:
Ann Saada

EBioMedicine 2019 09 8;47:14-15. Epub 2019 Aug 8.

Department of Genetic and Metabolic Diseases and Jacques Roboh, Department of Genetic Research, Hadassah Medical Center, Jerusalem 9112001, Israel; Faculty of Medicine, Hebrew University of Jerusalem, 9112001, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796496PMC
September 2019

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Neurochem Res 2019 Oct 9;44(10):2372-2384. Epub 2019 Apr 9.

Department of Genetic and Metabolic Diseases, Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, 9112001, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s11064-019-02786-5DOI Listing
October 2019

Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease.

Authors:
Ann Saada

EMBO Mol Med 2019 01;11(1)

The Monique and Jacques Roboh Department of Genetic Research, Department of Genetics and Metabolic Diseases, Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.15252/emmm.201809962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328937PMC
January 2019

Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment?

Neurobiol Dis 2019 04 10;124:57-66. Epub 2018 Nov 10.

Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Israel; Medical School, The Hebrew University, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.11.003DOI Listing
April 2019

The influence of in vivo exposure to nonylphenol ethoxylate 10 (NP-10) on the ovarian reserve in a mouse model.

Reprod Toxicol 2018 10 31;81:246-252. Epub 2018 Aug 31.

Infertility and IVF Unit, Helen Schneider Hospital for Women, Rabin Medical Center - Beilinson Hospital, and Felsenstein Medical Research Center, Petach Tikva 4941492; the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

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http://dx.doi.org/10.1016/j.reprotox.2018.08.020DOI Listing
October 2018

Opposing effects of intracellular versus extracellular adenine nucleotides on autophagy: implications for β-cell function.

J Cell Sci 2018 08 6;131(15). Epub 2018 Aug 6.

The Diabetes Unit and the Endocrine Service, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel

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http://dx.doi.org/10.1242/jcs.212969DOI Listing
August 2018

The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage.

Biochim Biophys Acta Bioenerg 2018 09 7;1859(9):893-900. Epub 2018 Jun 7.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.06.004DOI Listing
September 2018

Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage.

Eur J Hum Genet 2018 04 2;26(4):579-581. Epub 2018 Feb 2.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/s41431-017-0047-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891488PMC
April 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genet Med 2018 04 26;20(4):444-451. Epub 2017 Oct 26.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/gim.2017.125DOI Listing
April 2018

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Am J Med Genet A 2018 02 11;176(2):330-336. Epub 2017 Dec 11.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38574DOI Listing
February 2018

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Eur J Hum Genet 2017 10 2;25(10):1142-1146. Epub 2017 Aug 2.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602013PMC
October 2017

The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study.

J Clin Med 2017 Mar 10;6(3). Epub 2017 Mar 10.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, P.O. Box 12000, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.3390/jcm6030031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373000PMC
March 2017

Oxidative stress elicited by modifying the ceramide acyl chain length reduces the rate of clathrin-mediated endocytosis.

J Cell Sci 2017 04 9;130(8):1486-1493. Epub 2017 Mar 9.

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel

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http://dx.doi.org/10.1242/jcs.199968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399788PMC
April 2017

Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy.

Mitochondrion 2017 09 16;36:36-42. Epub 2017 Jan 16.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.mito.2017.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644719PMC
September 2017

The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.

J Clin Med 2016 Dec 22;6(1). Epub 2016 Dec 22.

Monique and Jacques Roboh Department of Genetic Research and the Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Hospital, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.3390/jcm6010001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294954PMC
December 2016

Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.

PLoS One 2016 25;11(10):e0165417. Epub 2016 Oct 25.

The Diabetes Unit, Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165417PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079646PMC
June 2017

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

JIMD Rep 2017 19;33:55-60. Epub 2016 Aug 19.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/8904_2016_580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413448PMC
August 2016

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.

Eur J Hum Genet 2016 12 3;24(12):1778-1782. Epub 2016 Aug 3.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2016.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117932PMC
December 2016

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Am J Med Genet A 2016 06 17;170(6):1603-7. Epub 2016 Mar 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37624DOI Listing
June 2016

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

J Med Genet 2015 Nov 25;52(11):749-53. Epub 2015 Aug 25.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2015-103239DOI Listing
November 2015

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

PLoS Genet 2015 Aug 6;11(8):e1005388. Epub 2015 Aug 6.

Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel; National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Beer Sheva, Israel.

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http://dx.doi.org/10.1371/journal.pgen.1005388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527749PMC
August 2015

Development of pheochromocytoma in ceramide synthase 2 null mice.

Endocr Relat Cancer 2015 Aug 25;22(4):623-32. Epub 2015 Jun 25.

Department of Biological ChemistryWeizmann Institute of Science, Rehovot 76100, IsraelDepartment of BiochemistrySchool of Medicine, Gachon University, Incheon 406-799, South KoreaDepartment of Veterinary ResourcesWeizmann Institute of Science, Rehovot 76100, IsraelMonique and Jacques Roboh Department of Genetic ResearchDepartment of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, IsraelSchool of Biology and Petit Institute for Bioengineering and BioscienceGeorgia Institute of Technology, Atlanta, Georgia 30332-0230, USA.

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http://dx.doi.org/10.1530/ERC-15-0058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586043PMC
August 2015

Coenzyme Q-dependent mitochondrial respiratory chain activity in granulosa cells is reduced with aging.

Fertil Steril 2015 Sep 11;104(3):724-7. Epub 2015 Jun 11.

Monique and Jacques Roboh Department of Genetic Research and Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.fertnstert.2015.05.023DOI Listing
September 2015

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

J Neurol Neurosurg Psychiatry 2016 Feb 20;87(2):212-6. Epub 2015 May 20.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://jnnp.bmj.com/content/87/2/212.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-310084
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http://dx.doi.org/10.1136/jnnp-2014-310084DOI Listing
February 2016

Weaning triggers a maturation step of pancreatic β cells.

Dev Cell 2015 Mar 5;32(5):535-45. Epub 2015 Feb 5.

Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2015.01.002DOI Listing
March 2015

PF-4708671 activates AMPK independently of p70S6K1 inhibition.

PLoS One 2014 9;9(9):e107364. Epub 2014 Sep 9.

Human Nutrition and Metabolism, Hebrew University Medical School, Jerusalem, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107364PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159345PMC
May 2015

Apoptosis-like death, an extreme SOS response in Escherichia coli.

mBio 2014 Jul 15;5(4):e01426-14. Epub 2014 Jul 15.

Department of Microbiology and Molecular Genetics, Institute for Medical Research Israel-Canada (IMRIC), The Hebrew University-Hadassah Medical School, Jerusalem, Israel

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http://mbio.asm.org/cgi/doi/10.1128/mBio.01426-14
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http://dx.doi.org/10.1128/mBio.01426-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161249PMC
July 2014

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Eur J Hum Genet 2015 Feb 30;23(2):159-64. Epub 2014 Apr 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2014.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297913PMC
February 2015

Mitochondrial STAT3 plays a major role in IgE-antigen-mediated mast cell exocytosis.

J Allergy Clin Immunol 2014 Aug 28;134(2):460-9. Epub 2014 Feb 28.

Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.12.1075DOI Listing
August 2014

IL-1β hampers glucose-stimulated insulin secretion in Cohen diabetic rat islets through mitochondrial cytochrome c oxidase inhibition by nitric oxide.

Am J Physiol Endocrinol Metab 2014 Mar 14;306(6):E648-57. Epub 2014 Jan 14.

Diabetes Unit, Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;

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http://dx.doi.org/10.1152/ajpendo.00451.2013DOI Listing
March 2014

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Eur J Hum Genet 2014 Aug 15;22(8):1019-25. Epub 2014 Jan 15.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350599PMC
August 2014

Mitochondria: mitochondrial OXPHOS (dys) function ex vivo--the use of primary fibroblasts.

Authors:
Ann Saada

Int J Biochem Cell Biol 2014 Mar 7;48:60-5. Epub 2014 Jan 7.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2013.12.010DOI Listing
March 2014

Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells.

Cell Metab 2014 Jan 12;19(1):109-21. Epub 2013 Dec 12.

Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2013.11.007DOI Listing
January 2014

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Eur J Hum Genet 2014 Jul 27;22(7):902-6. Epub 2013 Nov 27.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060119PMC
July 2014

The effect of small molecules on nuclear-encoded translation diseases.

Biochimie 2014 May 4;100:184-91. Epub 2013 Sep 4.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2013.08.024DOI Listing
May 2014

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

Eur J Pediatr 2014 Feb 31;173(2):243-5. Epub 2013 Aug 31.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://link.springer.com/content/pdf/10.1007/s00431-013-2153
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http://link.springer.com/10.1007/s00431-013-2153-x
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http://dx.doi.org/10.1007/s00431-013-2153-xDOI Listing
February 2014

Ceramide and the mitochondrial respiratory chain.

Biochimie 2014 May 9;100:88-94. Epub 2013 Aug 9.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2013.07.027DOI Listing
May 2014

Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatment.

J Cyst Fibros 2013 Dec 13;12(6):682-7. Epub 2013 May 13.

Monique and Jacques Roboh Department of Genetic Research Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem 91120, Israel; Department of Pediatrics Hadassah-Hebrew University Medical Center, Jerusalem Israel; Division of Adolescent Medicine Cincinnati Children's Hospital Medical Center, OH, USA.

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http://dx.doi.org/10.1016/j.jcf.2013.04.006DOI Listing
December 2013

Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.

Mol Med 2013 Jul 24;19:124-34. Epub 2013 Jul 24.

Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada (IMRIC), Hebrew University-Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.2119/molmed.2012.00343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745599PMC
July 2013

Dietary copper supplementation restores β-cell function of Cohen diabetic rats: a link between mitochondrial function and glucose-stimulated insulin secretion.

Am J Physiol Endocrinol Metab 2013 May 19;304(10):E1023-34. Epub 2013 Mar 19.

Diabetes Unit, Hadassah-Hebrew Univ. Medical Center, Jerusalem 12000, Israel 91120.

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http://dx.doi.org/10.1152/ajpendo.00036.2013DOI Listing
May 2013

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Orphanet J Rare Dis 2012 Sep 20;7:69. Epub 2012 Sep 20.

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str, 40, Göttingen, 37075, Germany.

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http://dx.doi.org/10.1186/1750-1172-7-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492161PMC
September 2012

Mitochondrial performance in heat acclimation--a lesson from ischemia/reperfusion and calcium overload insults in the heart.

Am J Physiol Regul Integr Comp Physiol 2012 Oct 15;303(8):R870-81. Epub 2012 Aug 15.

Laboratory of Environmental Physiology, Faculty of Dental Medicine, The Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1152/ajpregu.00155.2012DOI Listing
October 2012

Rat cardiac mitochondrial sub-populations show distinct features of oxidative phosphorylation during ischemia, reperfusion and ischemic preconditioning.

Cell Physiol Biochem 2012 8;30(1):83-94. Epub 2012 Jun 8.

Department of Cellular Biochemistry and Human Genetics, The Hebrew University-Hadassah Schools of Medicine and Dental Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1159/000339043DOI Listing
October 2012

Human granulosa luteal cell oxidative phosphorylation function is not affected by age or ovarian response.

Fertil Steril 2012 Jul 10;98(1):166-72. Epub 2012 May 10.

IVF Unit, Department of Obstetrics and Gynecology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.fertnstert.2012.03.051DOI Listing
July 2012

Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound.

PLoS One 2011 26;6(10):e26883. Epub 2011 Oct 26.

Monique and Jacques Roboh Department of Genetic Research, Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0026883PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202581PMC
March 2012

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Mol Genet Metab 2011 Dec 24;104(4):517-20. Epub 2011 Sep 24.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.020DOI Listing
December 2011

Toward genotype phenotype correlations in GFM1 mutations.

Mitochondrion 2012 Mar 1;12(2):242-7. Epub 2011 Oct 1.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.mito.2011.09.007DOI Listing
March 2012

The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases.

Authors:
Ann Saada

Mol Genet Metab 2011 Sep-Oct;104(1-2):39-47. Epub 2011 Jul 22.

Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh, Hadassah-Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2011.07.016DOI Listing
January 2012

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

J Inherit Metab Dis 2012 Jan 24;35(1):125-31. Epub 2011 May 24.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10545-011-9348-yDOI Listing
January 2012

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.

Lipids Health Dis 2011 May 20;10:84. Epub 2011 May 20.

Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1186/1476-511X-10-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107802PMC
May 2011

Control of pancreatic β cell regeneration by glucose metabolism.

Cell Metab 2011 Apr;13(4):440-449

Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2011.02.012DOI Listing
April 2011

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

Biochim Biophys Acta 2011 May 2;1812(5):625-9. Epub 2011 Feb 2.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bbadis.2011.01.013DOI Listing
May 2011

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Mol Genet Metab 2010 Oct-Nov;101(2-3):228-32. Epub 2010 Jul 7.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.021DOI Listing
January 2011

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

Eur J Hum Genet 2010 Oct 16;18(10):1160-5. Epub 2010 Jun 16.

Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1038/ejhg.2010.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987458PMC
October 2010

The effect of antiepileptic drugs on mitochondrial activity: a pilot study.

J Child Neurol 2010 May;25(5):541-5

The Neuro-Pediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1177/0883073809352888DOI Listing
May 2010

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

Mol Genet Metab 2010 May 10;100(1):65-70. Epub 2010 Feb 10.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.002DOI Listing
May 2010

The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition.

J Biol Chem 2010 Mar 6;285(10):7334-43. Epub 2010 Jan 6.

Department of Biochemistry and Molecular Biology, The Institute for Medical Research, Israel-Canada, Hebrew University, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1074/jbc.M109.061051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844181PMC
March 2010

alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders.

J Neurosci Res 2010 Mar;88(4):866-76

Department of Biochemistry and Molecular Biology, The Institute for Medical Research-Israel Canada, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1002/jnr.22246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819671PMC
March 2010

Acute infantile liver failure due to mutations in the TRMU gene.

Am J Hum Genet 2009 Sep;85(3):401-7

Department of Human Genetics and Metabolic Diseases, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771591PMC
September 2009

Fishing in the (deoxyribonucleotide) pool.

Authors:
Ann Saada

Biochem J 2009 Aug 27;422(3):e3-6. Epub 2009 Aug 27.

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1042/BJ20091194DOI Listing
August 2009

Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects.

Mitochondrion 2009 Nov 9;9(6):429-37. Epub 2009 Aug 9.

Department of Chemistry, University of North Carolina, Chapel Hill, United States.

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http://dx.doi.org/10.1016/j.mito.2009.08.001DOI Listing
November 2009

Nonylphenol ethoxylate plastic additives inhibit mitochondrial respiratory chain complex I.

Clin Chem 2009 Oct 17;55(10):1883-4. Epub 2009 Jul 17.

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http://dx.doi.org/10.1373/clinchem.2009.130054DOI Listing
October 2009

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Mol Genet Metab 2009 Jul 11;97(3):185-9. Epub 2009 Mar 11.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.002DOI Listing
July 2009

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Eur J Hum Genet 2009 Sep 4;17(9):1200-3. Epub 2009 Mar 4.

Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2009.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986593PMC
September 2009

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Am J Hum Genet 2008 Oct 25;83(4):489-94. Epub 2008 Sep 25.

The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561931PMC
October 2008

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Am J Hum Genet 2008 Sep 4;83(3):415-23. Epub 2008 Sep 4.

Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ajhg.2008.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556431PMC
September 2008

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.

Authors:
Ann Saada

Mol Genet Metab 2008 Nov 23;95(3):169-73. Epub 2008 Aug 23.

Metabolic disease Unit, Hadassah Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2008.07.007DOI Listing
November 2008

The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.

Mitochondrion 2008 Jun 30;8(3):254-61. Epub 2008 Apr 30.

Department of Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-3290, USA.

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http://dx.doi.org/10.1016/j.mito.2008.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2517634PMC
June 2008

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Am J Hum Genet 2008 May 24;82(5):1211-6. Epub 2008 Apr 24.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva 84105, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427202PMC
May 2008

TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency.

Mol Ther 2008 Apr 5;16(4):691-7. Epub 2008 Feb 5.

Department of Cellular Biochemistry and Human Genetics, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1038/mt.2008.4DOI Listing
April 2008