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Select record 21
ArticlesPeer ReviewedFull Text
Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency
Author / Creator:Douiev, Liza ; Miller, Chaya ; Ruppo, Shmuel ; Benyamini, Hadar ; Abu-Libdeh, Bassam ; Saada, Ann
Publisher:Switzerland: MDPI
Journal title:Cells (Basel, Switzerland), 2021-02, Vol.10 (2), p.452
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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
Author / Creator:Hershkovitz, Tova ; Kurolap, Alina ; Gonzaga-Jauregui, Claudia ; Paperna, Tamar ; Mory, Adi ; Wolf, Sarah E. ; Overton, John D. ; Shuldiner, Alan R. ; Saada, Ann ; Mandel, Hanna ; Baris Feldman, Hagit
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-06, Vol.64 (6), p.589-595
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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
Author / Creator:Nasca, Alessia ; Di Meo, Ivano ; Fellig, Yakov ; Saada, Ann ; Elpeleg, Orly ; Ghezzi, Daniele ; Edvardson, Shimon
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-08, Vol.66 (8), p.835-840
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Mice Deficient in Ribosomal Protein S6 Phosphorylation Suffer from Muscle Weakness that Reflects a Growth Defect and Energy Deficit
Author / Creator:Ruvinsky, Igor ; Katz, Maximiliano ; Dreazen, Avigail ; Gielchinsky, Yuval ; Saada, Ann ; Freedman, Nanette ; Mishani, Eyal ; Zimmerman, Gabriel ; Kasir, Judith ; Meyuhas, Oded
Publisher:United States: Public Library of Science
Journal title:PloS one, 2009-05, Vol.4 (5), p.e5618-e5618
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Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
Author / Creator:Levitas, Aviva ; Muhammad, Emad ; Harel, Gali ; Saada, Ann ; Caspi, Vered Chalifa ; Manor, Esther ; Beck, John C ; Sheffield, Val ; Parvari, Ruti
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-10, Vol.18 (10), p.1160-1165
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Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-Cells
Author / Creator:Aharon-Hananel, Genya ; Romero-Afrima, Leonor ; Saada, Ann ; Mantzur, Carmit ; Raz, Itamar ; Weksler-Zangen, Sarah
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-03, Vol.11 (6), p.929
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The Beneficial Effect of Mitochondrial Transfer Therapy in 5XFAD Mice via Liver–Serum–Brain Response
Author / Creator:Sweetat, Sahar ; Nitzan, Keren ; Suissa, Nir ; Haimovich, Yael ; Lichtenstein, Michal ; Zabit, Samar ; Benhamron, Sandrine ; Akarieh, Karameh ; Mishra, Kumudesh ; Barasch, Dinorah ; Saada, Ann ; Ziv, Tamar ; Kakhlon, Or ; Lorberboum-Galski, Haya ; Rosenmann, Hanna
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-03, Vol.12 (7), p.1006
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High Sucrose Diet-Induced Subunit I Tyrosine 304 Phosphorylation of Cytochrome c Oxidase Leads to Liver Mitochondrial Respiratory Dysfunction in the Cohen Diabetic Rat Model
Author / Creator:Arroum, Tasnim ; Pham, Lucynda ; Raisanen, Taryn E. ; Morse, Paul T. ; Wan, Junmei ; Bell, Jamie ; Lax, Rachel ; Saada, Ann ; Hüttemann, Maik ; Weksler-Zangen, Sarah
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2024-01, Vol.13 (1), p.19
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Select record 29
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Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells
Author / Creator:Marcus, Dana ; Lichtenstein, Michal ; Saada, Ann ; Lorberboum-Galski, Haya
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2013-01, Vol.19 (1), p.124-134
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Select record 30
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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Author / Creator:Ohlenbusch, Andreas ; Edvardson, Simon ; Skorpen, Johannes ; Bjornstad, Alf ; Saada, Ann ; Elpeleg, Orly ; Gärtner, Jutta ; Brockmann, Knut
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.69-69
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Select record 31
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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy
Author / Creator:Smits, Paulien ; Saada, Ann ; Wortmann, Saskia B ; Heister, Angelien J ; Brink, Maaike ; Pfundt, Rolph ; Miller, Chaya ; Haas, Dorothea ; Hantschmann, Ralph ; Rodenburg, Richard J T ; Smeitink, Jan A M ; van den Heuvel, Lambert P
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.394-399
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Select record 32
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Treatment of ErbB2 breast cancer by mitochondrial targeting
Author / Creator:Eldad, Sophia ; Hertz, Rachel ; Vainer, Gilad ; Saada, Ann ; Bar-Tana, Jacob
Publisher:England: BioMed Central Ltd
Journal title:Cancer & metabolism, 2020-07, Vol.8 (1), p.17-17, Article 17
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Select record 33
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Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
Author / Creator:Spiegel, Ronen ; Mandel, Hanna ; Saada, Ann ; Lerer, Issy ; Burger, Ayala ; Shaag, Avraham ; Shalev, Stavit A ; Jabaly-Habib, Haneen ; Goldsher, Dorit ; Gomori, John M ; Lossos, Alex ; Elpeleg, Orly ; Meiner, Vardiella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1019-1025
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Select record 34
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Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function
Author / Creator:Haziza, Sitvanit ; Magnani, Roberta ; Lan, Dima ; Keinan, Omer ; Saada, Ann ; Hershkovitz, Eli ; Yanay, Nurit ; Cohen, Yoram ; Nevo, Yoram ; Houtz, Robert L. ; Sheffield, Val C. ; Golan, Hava ; Parvari, Ruti
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-08, Vol.11 (8), p.e1005388-e1005388
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Select record 35
ArticlesPeer ReviewedFull Text
Nonylphenol Ethoxylate Plastic Additives Inhibit Mitochondrial Respiratory Chain Complex I
Author / Creator:Belaiche, Corinne ; Holt, Andrew ; Saada, Ann
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2009-10, Vol.55 (10), p.1883-1884
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Select record 36
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PF-4708671 Activates AMPK Independently of p70S6K1 Inhibition
Author / Creator:Vainer, Gilad W. ; Saada, Ann ; Kania-Almog, Juliane ; Amartely, Adir ; Bar-Tana, Jacob ; Hertz, Rachel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-09, Vol.9 (9), p.e107364-e107364
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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Author / Creator:Friederich, Marisa W. ; Timal, Sharita ; Powell, Christopher A. ; Dallabona, Cristina ; Kurolap, Alina ; Palacios-Zambrano, Sara ; Bratkovic, Drago ; Derks, Terry G. J. ; Bick, David ; Bouman, Katelijne ; Chatfield, Kathryn C. ; Damouny-Naoum, Nadine ; Dishop, Megan K. ; Falik-Zaccai, Tzipora C. ; Fares, Fuad ; Fedida, Ayalla ; Ferrero, Ileana ; Gallagher, Renata C. ; Garesse, Rafael ; Gilberti, Micol ; González, Cristina ; Gowan, Katherine ; Habib, Clair ; Halligan, Rebecca K. ; Kalfon, Limor ; Knight, Kaz ; Lefeber, Dirk ; Mamblona, Laura ; Mandel, Hanna ; Mory, Adi ; Ottoson, John ; Paperna, Tamar ; Pruijn, Ger J. M. ; Rebelo-Guiomar, Pedro F. ; Saada, Ann ; Sainz, Bruno ; Salvemini, Hayley ; Schoots, Mirthe H. ; Smeitink, Jan A. ; Szukszto, Maciej J. ; ter Horst, Hendrik J. ; van den Brandt, Frans ; van Spronsen, Francjan J. ; Veltman, Joris A. ; Wartchow, Eric ; Wintjes, Liesbeth T. ; Zohar, Yaniv ; Fernández-Moreno, Miguel A. ; Baris, Hagit N. ; Donnini, Claudia ; Minczuk, Michal ; Rodenburg, Richard J. ; Van Hove, Johan L. K.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-10, Vol.9 (1), p.1-14, Article 4065
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Select record 38
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Multifaceted Analyses of Isolated Mitochondria Establish the Anticancer Drug 2-Hydroxyoleic Acid as an Inhibitor of Substrate Oxidation and an Activator of Complex IV-Dependent State 3 Respiration
Author / Creator:Mishra, Kumudesh ; Péter, Mária ; Nardiello, Anna Maria ; Keller, Guy ; Llado, Victoria ; Fernandez-Garcia, Paula ; Kahlert, Ulf D. ; Barasch, Dinorah ; Saada, Ann ; Török, Zsolt ; Balogh, Gábor ; Escriba, Pablo V. ; Piotto, Stefano ; Kakhlon, Or
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-02, Vol.11 (3), p.578
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Select record 39
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2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
Author / Creator:Dan, Phyllis ; Edvardson, Simon ; Bielawski, Jacek ; Hama, Hiroko ; Saada, Ann
Publisher:England: BioMed Central Ltd
Journal title:Lipids in health and disease, 2011-05, Vol.10 (1), p.84-84, Article 84
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Select record 40
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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
Author / Creator:Tarailo‐Graovac, Maja ; Zahir, Farah R. ; Zivkovic, Irena ; Moksa, Michelle ; Selby, Kathryn ; Sinha, Sunita ; Nislow, Corey ; Stockler‐Ipsiroglu, Sylvia G. ; Sheffer, Ruth ; Saada‐Reisch, Ann ; Friedman, Jan M. ; Karnebeek, Clara D. M. ; Horvath, Gabriella A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00961-n/a
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Showing 21 to 40 of 64 results

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Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency

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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy

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Mice Deficient in Ribosomal Protein S6 Phosphorylation Suffer from Muscle Weakness that Reflects a Growth Defect and Energy Deficit

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

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Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-Cells

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The Beneficial Effect of Mitochondrial Transfer Therapy in 5XFAD Mice via Liver–Serum–Brain Response

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High Sucrose Diet-Induced Subunit I Tyrosine 304 Phosphorylation of Cytochrome c Oxidase Leads to Liver Mitochondrial Respiratory Dysfunction in the Cohen Diabetic Rat Model

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Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells

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

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

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Treatment of ErbB2 breast cancer by mitochondrial targeting

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

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

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Nonylphenol Ethoxylate Plastic Additives Inhibit Mitochondrial Respiratory Chain Complex I

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PF-4708671 Activates AMPK Independently of p70S6K1 Inhibition

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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

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Multifaceted Analyses of Isolated Mitochondria Establish the Anticancer Drug 2-Hydroxyoleic Acid as an Inhibitor of Substrate Oxidation and an Activator of Complex IV-Dependent State 3 Respiration

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

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

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