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Items: 1 to 20 of 111

1.

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

Nitzan K, Benhamron S, Valitsky M, Kesner EE, Lichtenstein M, Ben-Zvi A, Ella E, Segalstein Y, Saada A, Lorberboum-Galski H, Rosenmann H.

J Alzheimers Dis. 2019;72(2):587-604. doi: 10.3233/JAD-190853.

PMID:
31640104
2.

Insights into deoxyribonucleoside therapy for mitochondrial TK2 deficient mtDNA depletion.

Saada A.

EBioMedicine. 2019 Sep;47:14-15. doi: 10.1016/j.ebiom.2019.08.005. Epub 2019 Aug 8. No abstract available.

3.

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

Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A.

Neurochem Res. 2019 Oct;44(10):2372-2384. doi: 10.1007/s11064-019-02786-5. Epub 2019 Apr 9.

PMID:
30968303
4.

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

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center, Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H.

J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22.

PMID:
30903008
5.

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

Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, Wamelink MMC, Saada A, Shaag A, Elpeleg O, Spiegel R.

Metab Brain Dis. 2019 Apr;34(2):557-563. doi: 10.1007/s11011-019-0384-x. Epub 2019 Jan 12. Review.

PMID:
30637540
6.

Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease.

Saada A.

EMBO Mol Med. 2019 Jan;11(1). pii: e9962. doi: 10.15252/emmm.201809962. No abstract available.

7.

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

Keller G, Binyamin O, Frid K, Saada A, Gabizon R.

Neurobiol Dis. 2019 Apr;124:57-66. doi: 10.1016/j.nbd.2018.11.003. Epub 2018 Nov 10.

PMID:
30423473
8.

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

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

9.

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

Shufaro Y, Saada A, Simeonov M, Tsuberi BZ, Alban C, Kogot-Levin A, Shochat T, Fisch B, Abir R.

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

PMID:
30176375
10.

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

Israeli T, Riahi Y, Saada A, Yefet D, Cerasi E, Tirosh B, Leibowitz G.

J Cell Sci. 2018 Aug 6;131(15). pii: jcs212969. doi: 10.1242/jcs.212969.

11.

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

Bigelman E, Cohen L, Aharon-Hananel G, Levy R, Rozenbaum Z, Saada A, Keren G, Entin-Meer M.

PLoS One. 2018 Jun 11;13(6):e0198196. doi: 10.1371/journal.pone.0198196. eCollection 2018.

12.

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

Douiev L, Saada A.

Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):893-900. doi: 10.1016/j.bbabio.2018.06.004. Epub 2018 Jun 7.

13.

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

Douiev L, Abu-Libdeh B, Saada A.

Eur J Hum Genet. 2018 Apr;26(4):579-581. doi: 10.1038/s41431-017-0047-5. Epub 2018 Feb 2.

14.

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

Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C, Sharon D.

Genet Med. 2018 Sep;20(9):1004-1012. doi: 10.1038/gim.2017.227. Epub 2018 Jan 4.

PMID:
29300381
15.

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E.

Genet Med. 2018 Apr;20(4):444-451. doi: 10.1038/gim.2017.125. Epub 2017 Oct 26.

PMID:
29261183
16.

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

Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS.

Am J Med Genet A. 2018 Feb;176(2):330-336. doi: 10.1002/ajmg.a.38574. Epub 2017 Dec 11.

PMID:
29226520
17.

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

Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A.

Eur J Hum Genet. 2017 Oct;25(10):1142-1146. doi: 10.1038/ejhg.2017.112. Epub 2017 Aug 2.

18.

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

Alban C, Fatale E, Joulani A, Ilin P, Saada A.

J Clin Med. 2017 Mar 10;6(3). pii: E31. doi: 10.3390/jcm6030031.

19.

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

Volpert G, Ben-Dor S, Tarcic O, Duan J, Saada A, Merrill AH Jr, Pewzner-Jung Y, Futerman AH.

J Cell Sci. 2017 Apr 15;130(8):1486-1493. doi: 10.1242/jcs.199968. Epub 2017 Mar 9.

20.

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

Yu-Wai-Man P, Soiferman D, Moore DG, Burté F, Saada A.

Mitochondrion. 2017 Sep;36:36-42. doi: 10.1016/j.mito.2017.01.004. Epub 2017 Jan 16.

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