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Page 1
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O. Zeharia A, et al. Among authors: pines o. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25. Am J Hum Genet. 2008. PMID: 18817903 Free PMC article.
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Kaufmann R, et al. Among authors: pines o. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950787 Free PMC article.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: pines o. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310
Evolving dual targeting of a prokaryotic protein in yeast.
Burak E, Yogev O, Sheffer S, Schueler-Furman O, Pines O. Burak E, et al. Among authors: pines o. Mol Biol Evol. 2013 Jul;30(7):1563-73. doi: 10.1093/molbev/mst039. Epub 2013 Mar 5. Mol Biol Evol. 2013. PMID: 23462316
Mitochondrial derived vesicles- Quo Vadis?
Hazan Ben-Menachem R, Pines O, Saada A. Hazan Ben-Menachem R, et al. Among authors: pines o. FEBS J. 2024 Nov;291(21):4660-4669. doi: 10.1111/febs.17103. Epub 2024 Feb 27. FEBS J. 2024. PMID: 38414203 Review.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R. Neumann MA, et al. Among authors: pines o. Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4. Sci Rep. 2020. PMID: 33028849 Free PMC article.
79 results