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ArticlesPeer ReviewedFull Text
Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease
Author / Creator:Saada, Ann
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2019-01, Vol.11 (1), p.1-n/a
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Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
Author / Creator:Zeharia, Avraham ; Friedman, Jonathan R ; Tobar, Ana ; Saada, Ann ; Konen, Osnat ; Fellig, Yacov ; Shaag, Avraham ; Nunnari, Jodi ; Elpeleg, Orly
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1778-1782
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Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues
Author / Creator:Angel, Mor ; Kleinberg, Yuval ; Newaz, Tanmoy ; Li, Victoria ; Zaid, Rinat ; Oved, Keren ; Dorot, Orly ; Pichinuk, Edward ; Avitan-Hersh, Emily ; Saada, Ann ; Weiss, Karin ; Zaremberg, Vanina ; Tal, Galit ; Zalckvar, Einat
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-04, Vol.20 (1), p.195-13, Article 195
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Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms
Author / Creator:Ezer, Shlomit ; Ronin, Nathan ; Yanovsky-Dagan, Shira ; Rotem-Bamberger, Shahar ; Halstuk, Orli ; Wexler, Yair ; Ben-Moshe, Zohar ; Plaschkes, Inbar ; Benyamini, Hadar ; Saada, Ann ; Inbal, Adi ; Harel, Tamar
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-04, Vol.20 (1), p.181-12, Article 181
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Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound
Author / Creator:Golubitzky, Anna ; Dan, Phyllis ; Weissman, Sarah ; Link, Gabriela ; Wikstrom, Jakob D. ; Saada, Ann
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-10, Vol.6 (10), p.e26883-e26883
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Protein kinase C epsilon activation improves early survival in an acute porcine model of controlled hemorrhage
Author / Creator:Simchoni, Maya ; Wagnert-Avraham, Linn ; Derazne, Estela ; Nachman, Dean ; Gershon, Yuval ; Cohen Levi, Eliraz ; Horesh, Adi ; Cohen, Yaron ; Nitecki, Maya ; Glick, Yuval ; Eisenkraft, Arik ; Suissa, Nir ; Twig, Gilad ; Gertz, S. David ; Saada, Ann ; Furer, Ariel
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-03, Vol.15 (1), p.9126-11, Article 9126
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ArticlesPeer ReviewedFull Text
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells
Author / Creator:Douiev, Liza ; Sheffer, Ruth ; Horvath, Gabriella ; Saada, Ann
Publisher:Switzerland: MDPI
Journal title:Cells (Basel, Switzerland), 2020-01, Vol.9 (2), p.301
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Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease
Author / Creator:Bigelman, Einat ; Cohen, Lena ; Aharon-Hananel, Genya ; Levy, Ran ; Rozenbaum, Zach ; Saada, Ann ; Keren, Gad ; Entin-Meer, Michal
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-06, Vol.13 (6), p.e0198196-e0198196
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Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts
Author / Creator:Kogot-Levin, Aviram ; Saada, Ann ; Leibowitz, Gil ; Soiferman, Devorah ; Douiev, Liza ; Raz, Itamar ; Weksler-Zangen, Sarah
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-10, Vol.11 (10), p.e0165417-e0165417
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ArticlesPeer ReviewedFull Text
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Author / Creator:Shalata, Adel ; Saada, Ann ; Mahroum, Mohammed ; Hadid, Yarin ; Furman, Chaya ; Shalata, Zaher Eldin ; Desnick, Robert J. ; Lorber, Avraham ; Khoury, Asaad ; Higazi, Adnan ; Shaag, Avraham ; Barash, Varda ; Spiegel, Ronen ; Vlodavsky, Euvgeni ; Rustin, Pierre ; Pietrokovski, Shmuel ; Manov, Irena ; Gieger, Dan ; Tal, Galit ; Salzberg, Adi ; Mandel, Hanna
Publisher:England: BioMed Central
Journal title:Human genomics, 2025-02, Vol.19 (1), p.21-18, Article 21
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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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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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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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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Showing 1 to 20 of 64 results

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Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease

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

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Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues

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Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms

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Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound

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Protein kinase C epsilon activation improves early survival in an acute porcine model of controlled hemorrhage

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

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Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease

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Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts

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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype

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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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