Saada A - Search Results

1

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

Marcus D, Lichtenstein M, Saada A, Lorberboum-Galski H. Marcus D, et al. Among authors: saada a. Mol Med. 2013 Jul 24;19(1):124-34. doi: 10.2119/molmed.2012.00343. Mol Med. 2013. PMID: 23670274 Free PMC article.

2

C6ORF66 is an assembly factor of mitochondrial complex I.

Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O. Saada A, et al. Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003. Am J Hum Genet. 2008. PMID: 18179882 Free PMC article.

3

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

Rapoport M, Saada A, Elpeleg O, Lorberboum-Galski H. Rapoport M, et al. Among authors: saada a. Mol Ther. 2008 Apr;16(4):691-7. doi: 10.1038/mt.2008.4. Epub 2008 Feb 5. Mol Ther. 2008. PMID: 18362926 Free article.

4

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.

5

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

Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, Jalas C, Elpeleg O. Saada A, et al. J Inherit Metab Dis. 2012 Jan;35(1):125-31. doi: 10.1007/s10545-011-9348-y. Epub 2011 May 24. J Inherit Metab Dis. 2012. PMID: 21607760

6

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

Golubitzky A, Dan P, Weissman S, Link G, Wikstrom JD, Saada A. Golubitzky A, et al. Among authors: saada a. PLoS One. 2011;6(10):e26883. doi: 10.1371/journal.pone.0026883. Epub 2011 Oct 26. PLoS One. 2011. PMID: 22046392 Free PMC article.

7

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

Soiferman D, Ayalon O, Weissman S, Saada A. Soiferman D, et al. Among authors: saada a. Biochimie. 2014 May;100:184-91. doi: 10.1016/j.biochi.2013.08.024. Epub 2013 Sep 4. Biochimie. 2014. PMID: 24012549

8

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

Saada A. Saada A. Int J Biochem Cell Biol. 2014 Mar;48:60-5. doi: 10.1016/j.biocel.2013.12.010. Epub 2014 Jan 7. Int J Biochem Cell Biol. 2014. PMID: 24412346 Review.

9

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

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Among authors: saada a. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.

10

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

Ben-Meir A, Yahalomi S, Moshe B, Shufaro Y, Reubinoff B, Saada A. Ben-Meir A, et al. Among authors: saada a. Fertil Steril. 2015 Sep;104(3):724-7. doi: 10.1016/j.fertnstert.2015.05.023. Epub 2015 Jun 11. Fertil Steril. 2015. PMID: 26049051 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

211 results

Search Page

Filters