Prof. Ann Saada, PhD - Hadassah-Hebrew University Medical Center

Prof. Ann Saada

PhD

Hadassah-Hebrew University Medical Center

Jerusalem | Israel

Main Specialties: Biochemical Genetics

Additional Specialties: Inborn errors of metabolism,mitocondrial diseases

ORCID logohttps://orcid.org/0000-0003-2951-0656

Prof. Ann Saada, PhD - Hadassah-Hebrew University Medical Center

Prof. Ann Saada

PhD

Introduction

Primary Affiliation: Hadassah-Hebrew University Medical Center - Jerusalem , Israel

Specialties:

Additional Specialties:

Research Interests:

Education

Jun 1991
HUJI
PhD

Experience

Jan 2009
Hebrew University Faculty of Medicine
Jan 2005
Hadassah Medical Center

Publications

110Publications

2219Reads

22Profile Views

124PubMed Central Citations

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
6 Reads
2.593 Impact Factor

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
5 Reads
5.080 Impact Factor

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

Metab Brain Dis 2019 04 12;34(2):557-563. Epub 2019 Jan 12.

Department of Pediatrics B, Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1007/s11011-019-0384-xDOI Listing
April 2019
12 Reads
2.638 Impact Factor

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
2 Reads
8.665 Impact Factor

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
7 Reads
3.230 Impact Factor

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.

Genet Med 2018 09 4;20(9):1004-1012. Epub 2018 Jan 4.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/gim.2017.227DOI Listing
September 2018
24 Reads
7.330 Impact Factor

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
3 Reads
5.353 Impact Factor

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
9 Reads
5.432 Impact Factor

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
98 Reads
7.330 Impact Factor

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
5 Reads
4.350 Impact Factor

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
15 Reads
2.160 Impact Factor

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
12 Reads
4.350 Impact Factor

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
14 Reads
3.250 Impact Factor

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
41 Reads
3.234 Impact Factor

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
39 Reads
5.432 Impact Factor

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
6 Reads

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
5 Reads

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
12 Reads
4.350 Impact Factor

Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.

Biochem J 2016 10 5;473(20):3463-3485. Epub 2016 Aug 5.

Department of Medical Biochemistry, Semmelweis University, Tuzolto Street 37-47, Budapest 1094, Hungary MTA-SE Lendület Neurobiochemistry Research Group, Budapest 1094, Hungary.

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http://dx.doi.org/10.1042/BCJ20160594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126846PMC
October 2016
33 Reads
4.400 Impact Factor

Cap-independent translation by DAP5 controls cell fate decisions in human embryonic stem cells.

Genes Dev 2016 Sep;30(17):1991-2004

Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel;

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http://dx.doi.org/10.1101/gad.285239.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066241PMC
September 2016
21 Reads
10.800 Impact Factor

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
29 Reads

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
15 Reads
2.160 Impact Factor

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
Web Search
http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-310084
Publisher Site
http://dx.doi.org/10.1136/jnnp-2014-310084DOI Listing
February 2016
44 Reads
6.810 Impact Factor

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

J Med Genet 2016 Feb 11;53(2):127-31. Epub 2015 Nov 11.

Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752660PMC
February 2016
36 Reads
6.340 Impact Factor

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
85 Reads
6.340 Impact Factor

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
24 Reads
4.590 Impact Factor

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
22 Reads
4.805 Impact Factor

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
15 Reads

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
28 Reads
3.234 Impact Factor

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
14 Reads
9.710 Impact Factor

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
16 Reads
4.350 Impact Factor

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
23 Reads
4.350 Impact Factor

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
13 Reads
11.480 Impact Factor

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
27 Reads
4.350 Impact Factor

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
Publisher Site
http://dx.doi.org/10.1128/mBio.01426-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161249PMC
July 2014
41 Reads
6.790 Impact Factor

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
22 Reads
2.963 Impact Factor

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
17 Reads
2.963 Impact Factor

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
18 Reads
3.790 Impact Factor

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
4 Reads
4.050 Impact Factor

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
Web Search
http://link.springer.com/10.1007/s00431-013-2153-x
Publisher Site
http://dx.doi.org/10.1007/s00431-013-2153-xDOI Listing
February 2014
14 Reads
1.983 Impact Factor

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
53 Reads
17.570 Impact Factor

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
25 Reads
3.480 Impact Factor

Protection of a ceramide synthase 2 null mouse from drug-induced liver injury: role of gap junction dysfunction and connexin 32 mislocalization.

J Biol Chem 2013 Oct 9;288(43):30904-16. Epub 2013 Sep 9.

From the Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel.

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http://dx.doi.org/10.1074/jbc.M112.448852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829405PMC
October 2013
16 Reads
4.573 Impact Factor

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
8 Reads
4.510 Impact Factor

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
8 Reads
3.790 Impact Factor

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
20 Reads
3.110 Impact Factor

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
5 Reads
2.880 Impact Factor

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
3 Reads
3.360 Impact Factor

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
32 Reads
4.590 Impact Factor

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
58 Reads
3.250 Impact Factor

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
7 Reads
3.234 Impact Factor

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
17 Reads
3.370 Impact Factor

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
3 Reads
2.625 Impact Factor

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
5 Reads
2.625 Impact Factor

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
3 Reads
2.220 Impact Factor

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
29 Reads

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

Eur J Hum Genet 2011 Apr 29;19(4):394-9. Epub 2010 Dec 29.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060326PMC
April 2011
51 Reads
4.350 Impact Factor

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
26 Reads
17.570 Impact Factor

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
15 Reads
2.625 Impact Factor

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
26 Reads
4.350 Impact Factor

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
6 Reads
2.625 Impact Factor

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
2 Reads
1.670 Impact Factor

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
6 Reads
2.594 Impact Factor

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
8 Reads
4.573 Impact Factor

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
6 Reads
3.250 Impact Factor

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
13 Reads
7.911 Impact Factor

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
20 Reads
4.350 Impact Factor

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
32 Reads
10.931 Impact Factor

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
2 Reads
4.400 Impact Factor

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
16 Reads
2.625 Impact Factor

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
3 Reads
2.625 Impact Factor

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Am J Hum Genet 2008 Nov;83(5):643-8

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

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http://dx.doi.org/10.1016/j.ajhg.2008.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668027PMC
November 2008
14 Reads
10.931 Impact Factor

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
5 Reads
10.931 Impact Factor

Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.

Cardiovasc Toxicol 2008 30;8(2):57-69. Epub 2008 Apr 30.

Department of Pathology, Emory University School of Medicine, 7126 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta, GA, 30322, USA.

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http://dx.doi.org/10.1007/s12012-008-9015-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701312PMC
September 2008
30 Reads
2.060 Impact Factor

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
32 Reads
10.931 Impact Factor

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
6 Reads
3.250 Impact Factor

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Mol Genet Metab 2008 May 3;94(1):78-82. Epub 2008 Jan 3.

Al-Mustaqbal Hospital, Ramallah, Palestinian Authority.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.013DOI Listing
May 2008
15 Reads
2.625 Impact Factor

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
4 Reads
10.931 Impact Factor

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
5 Reads
6.230 Impact Factor

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Ann Neurol 2008 Mar;63(3):405-8

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

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http://dx.doi.org/10.1002/ana.21332DOI Listing
March 2008
5 Reads
9.980 Impact Factor

C6ORF66 is an assembly factor of mitochondrial complex I.

Am J Hum Genet 2008 Jan;82(1):32-8

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

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http://dx.doi.org/10.1016/j.ajhg.2007.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253982PMC
January 2008
4 Reads
10.931 Impact Factor

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Am J Hum Genet 2007 Oct 24;81(4):857-62. Epub 2007 Aug 24.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1086/521227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227936PMC
October 2007
8 Reads
10.931 Impact Factor

Novel selective human mitochondrial kinase inhibitors: design, synthesis and enzymatic activity.

Bioorg Med Chem 2007 Apr 2;15(8):3065-81. Epub 2007 Feb 2.

Department of Pharmaceutical Sciences, University of Ferrara, Italy.

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http://dx.doi.org/10.1016/j.bmc.2007.01.049DOI Listing
April 2007
5 Reads
2.793 Impact Factor

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

Am J Hum Genet 2006 Nov 15;79(5):869-77. Epub 2006 Sep 15.

Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1086/508434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698578PMC
November 2006
20 Reads
10.931 Impact Factor

A novel thiol antioxidant that crosses the blood brain barrier protects dopaminergic neurons in experimental models of Parkinson's disease.

Eur J Neurosci 2005 Feb;21(3):637-46

Laboratory of Neurosciences, Felsenstein Medical Research Center and Department of Neurology, Rabin Medical Center, Beilinson Campus Tel Aviv University, Sackler School of Medicine, Petah-Tikva 49100, Israel.

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http://dx.doi.org/10.1111/j.1460-9568.2005.03889.xDOI Listing
February 2005
13 Reads
3.181 Impact Factor

Deoxyribonucleotides and disorders of mitochondrial DNA integrity.

Authors:
Ann Saada

DNA Cell Biol 2004 Dec;23(12):797-806

Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1089/dna.2004.23.797DOI Listing
December 2004
2 Reads
2.060 Impact Factor

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency.

Anal Biochem 2004 Dec;335(1):66-72

Metabolic Disease Unit, Shaare-Zedek Medical Center, POB 3235, Jerusalem 91031, Israel.

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http://dx.doi.org/10.1016/j.ab.2004.08.015DOI Listing
December 2004
4 Reads
2.220 Impact Factor

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Ann Neurol 2004 Nov;56(5):734-8

Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.20282DOI Listing
November 2004
5 Reads
62 Citations
9.980 Impact Factor

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.

Biochem Biophys Res Commun 2003 Oct;310(3):963-6

Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bbrc.2003.09.104DOI Listing
October 2003
2 Reads
9 Citations
2.300 Impact Factor

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

Mol Genet Metab 2003 May;79(1):1-5

Metabolic Disease Unit, Shaare-Zedek Medical Center, Post Office Box 3235, IL-91031 Jerusalem, Israel.

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http://dx.doi.org/10.1016/s1096-7192(03)00063-5DOI Listing
May 2003
1 Read
31 Citations
2.620 Impact Factor

Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.

J Biol Chem 2003 Feb 18;278(9):6963-8. Epub 2002 Dec 18.

Department of Veterinary Medical Chemistry, Swedish University of Agricultural Sciences, The Biomedical Centre, P. O. Box 575, SE-751 23 Uppsala, Sweden.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M206143200
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http://dx.doi.org/10.1074/jbc.M206143200DOI Listing
February 2003
2 Reads
15 Citations
4.570 Impact Factor

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

J Mol Med (Berl) 2002 Jul 24;80(7):389-96. Epub 2002 May 24.

Hebrew University, Faculty of Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00109-002-0343-5DOI Listing
July 2002
31 Reads
7 Citations
5.110 Impact Factor

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

Reprod Toxicol. 2018 Aug 31;81:246-252. doi: 10.1016/j.reprotox.2018.08.020. [

Reprod toxicology

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3 Reads

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Hanna Mandel
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