Recent NPRC Publications on Mitochondrial Disease
2019
Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JCI, Amato P, Mitalipov S
Author Correction: Mitochondrial replacement in human oocytes carrying pathogenicmitochondrial DNA mutations.
Nature. 2019 Mar;567(7747):E5-E9. doi: 10.1038/s41586-019-0876-1. 2019.
Ma H, Hayama T, Van Dyken C, Darby H, Koski A, Lee Y, Gutierrez NM, Yamada S, Li Y, Andrews M, Ahmed R, Liang D, Gonmanee T, Kang E, Nasser M, Kempton B, Brigande J, McGill TJ, Terzic A, Amato P, Mitalipov S
Deleterious mtDNA Mutations are Common in Mature Oocytes.
Biol Reprod. 2019 Oct 17. pii: 5588758. doi: 10.1093/biolre/ioz202. 2019.
2018
McGill TJ, Stoddard J, Renner LM, Messaoudi I, Bharti K, Mitalipov S, Lauer A, Wilson DJ, Neuringer M
Allogeneic iPSC-Derived RPE Cell Graft Failure Following Transplantation Into theSubretinal Space in Nonhuman Primates.
Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1374-1383. doi:10.1167/iovs.17-22467. 2018.
Xu J, Lawson MS, Mitalipov SM, Park BS, Xu F
Stage-specific modulation of antimullerian hormone promotes primate folliculardevelopment and oocyte maturation in the matrix-free three-dimensional culture.
Fertil Steril. 2018 Nov;110(6):1162-1172. doi: 10.1016/j.fertnstert.2018.07.006. 2018.
2017
Ma H, Marti-Gutierrez N, Park SW, Wu J, Lee Y, Suzuki K, Koski A, Ji D, Hayama T, Ahmed R, Darby H, Van Dyken C, Li Y, Kang E, Park AR, Kim D, Kim ST, Gong J, Gu Y, Xu X, Battaglia D, Krieg SA, Lee DM, Wu DH, Wolf DP, Heitner SB, Belmonte JCI, Amato P, Kim JS, Kaul S, Mitalipov S
Correction of a pathogenic gene mutation in human embryos.
Nature. 2017 Aug 24;548(7668):413-419. doi: 10.1038/nature23305. Epub 2017 Aug 2. 2017.
Ma H, O'Neil RC, Marti Gutierrez N, Hariharan M, Zhang ZZ, He Y, Cinnioglu C, Kayali R, Kang E, Lee Y, Hayama T, Koski A, Nery J, Castanon R, Tippner-Hedges R, Ahmed R, Van Dyken C, Li Y, Olson S, Battaglia D, Lee DM, Wu DH, Amato P, Wolf DP, Ecker JR, Mitalipov S
Functional Human Oocytes Generated by Transfer of Polar Body Genomes.
Cell Stem Cell. 2017 Jan 5;20(1):112-119. doi: 10.1016/j.stem.2016.10.001. Epub2016 Nov 10. 2017.
Wolf DP, Hayama T, Mitalipov S
Mitochondrial genome inheritance and replacement in the human germline.
EMBO J. 2017 Aug 1;36(15):2177-2181. doi: 10.15252/embj.201797606. Epub 2017 Jul 5. 2017.
Wolf DP, Morey R, Kang E, Ma H, Hayama T, Laurent LC, Mitalipov S
Concise Review: Embryonic Stem Cells Derived by Somatic Cell Nuclear Transfer: A Horse in the Race?
Stem Cells. 2017 Jan;35(1):26-34. doi: 10.1002/stem.2496. Epub 2016 Sep 27. 2017.
Zhao MT, Chen H, Liu Q, Shao NY, Sayed N, Wo HT, Zhang JZ, Ong SG, Liu C, Kim Y, Yang H, Chour T, Ma H, Gutierrez NM, Karakikes I, Mitalipov S, Snyder MP, Wu JC
Molecular and functional resemblance of differentiated cells derived fromisogenic human iPSCs and SCNT-derived ESCs.
Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11111-E11120. doi:10.1073/pnas.1708991114. Epub 2017 Dec 4. 2017.
2016
Folmes CD, Ma H, Mitalipov S, Terzic A
Mitochondria in pluripotent stem cells: stemness regulators and disease targets.
Curr Opin Genet Dev. 2016 Jun;38:1-7. doi: 10.1016/j.gde.2016.02.001. Epub 2016Mar 5. 2016.
Kang E, Wang X, Tippner-Hedges R, Ma H, Folmes CD, Gutierrez NM, Lee Y, Van Dyken C, Ahmed R, Li Y, Koski A, Hayama T, Luo S, Harding CO, Amato P, Jensen J, Battaglia D, Lee D, Wu D, Terzic A, Wolf DP, Huang T, Mitalipov S
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs.
Cell Stem Cell. 2016 May 5;18(5):625-36. doi: 10.1016/j.stem.2016.02.005. Epub2016 Apr 14. 2016.
Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JC, Amato P, Mitalipov S
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.
Nature. 2016 Dec 8;540(7632):270-275. doi: 10.1038/nature20592. Epub 2016 Nov 30. 2016.
Ma H, Marti Gutierrez N, Morey R, Van Dyken C, Kang E, Hayama T, Lee Y, Li Y, Tippner-Hedges R, Wolf DP, Laurent LC, Mitalipov S
Incompatibility between Nuclear and Mitochondrial Genomes Contributes to anInterspecies Reproductive Barrier.
Cell Metab. 2016 Aug 9;24(2):283-94. doi: 10.1016/j.cmet.2016.06.012. Epub 2016Jul 14. 2016.
2015
Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S
Metabolic rescue in pluripotent cells from patients with mtDNA disease.
Nature. 2015 Aug 13;524(7564):234-8. doi: 10.1038/nature14546. Epub 2015 Jul 15. 2015.
Wolf DP, Mitalipov N, Mitalipov S
Mitochondrial replacement therapy in reproductive medicine.
Trends Mol Med. 2015 Feb;21(2):68-76. doi: 10.1016/j.molmed.2014.12.001. Epub2014 Dec 10. 2015.
2014
Amato P, Tachibana M, Sparman M, Mitalipov S
Three-parent in vitro fertilization: gene replacement for the prevention ofinherited mitochondrial diseases.
Fertil Steril. 2014 Jan;101(1):31-5. doi: 10.1016/j.fertnstert.2013.11.030. 2014.
Chinnery PF, Craven L, Mitalipov S, Stewart JB, Herbert M, Turnbull DM
The challenges of mitochondrial replacement.
PLoS Genet. 2014 Apr 24;10(4):e1004315. doi: 10.1371/journal.pgen.1004315.eCollection 2014 Apr. 2014.
Daughtry B, Mitalipov S
Concise review: parthenote stem cells for regenerative medicine: genetic,epigenetic, and developmental features.
Stem Cells Transl Med. 2014 Mar;3(3):290-8. doi: 10.5966/sctm.2013-0127. Epub2014 Jan 17. 2014.
Johannesson B, Sagi I, Gore A, Paull D, Yamada M, Golan-Lev T, Li Z, LeDuc C, Shen Y, Stern S, Xu N, Ma H, Kang E, Mitalipov S, Sauer MV, Zhang K, Benvenisty N, Egli D
Comparable frequencies of coding mutations and loss of imprinting in humanpluripotent cells derived by nuclear transfer and defined factors.
Cell Stem Cell. 2014 Nov 6;15(5):634-42. doi: 10.1016/j.stem.2014.10.002. Epub2014 Nov 6. 2014.
Kang E, Wu G, Ma H, Li Y, Tippner-Hedges R, Tachibana M, Sparman M, Wolf DP, Scholer HR, Mitalipov S
Nuclear reprogramming by interphase cytoplasm of two-cell mouse embryos.
Nature. 2014 May 1;509(7498):101-4. doi: 10.1038/nature13134. Epub 2014 Mar 26. 2014.
Ma H, Morey R, O'Neil RC, He Y, Daughtry B, Schultz MD, Hariharan M, Nery JR, Castanon R, Sabatini K, Thiagarajan RD, Tachibana M, Kang E, Tippner-Hedges R, Ahmed R, Gutierrez NM, Van Dyken C, Polat A, Sugawara A, Sparman M, Gokhale S, Amato P, Wolf DP, Ecker JR, Laurent LC, Mitalipov S
Abnormalities in human pluripotent cells due to reprogramming mechanisms.
Nature. 2014 Jul 10;511(7508):177-83. doi: 10.1038/nature13551. Epub 2014 Jul 2. 2014.
Mitalipov S, Amato P, Parry S, Falk MJ
Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.
Cell Rep. 2014 May 22;7(4):935-7. doi: 10.1016/j.celrep.2014.05.004. 2014.
Mitalipov S, Wolf DP
Clinical and ethical implications of mitochondrial gene transfer.
Trends Endocrinol Metab. 2014 Jan;25(1):5-7. doi: 10.1016/j.tem.2013.09.001. 2014.
Wolf DP, Mitalipov S
Mitochondrial replacement therapies can circumvent mtDNA-based diseasetransmission.
Cell Metab. 2014 Jul 1;20(1):6-8. doi: 10.1016/j.cmet.2014.06.012. 2014.
2013
Janovick JA, Stewart MD, Jacob D, Martin LD, Deng JM, Stewart CA, Wang Y, Cornea A, Chavali L, Lopez S, Mitalipov S, Kang E, Lee HS, Manna PR, Stocco DM, Behringer RR, Conn PM
Restoration of testis function in hypogonadotropic hypogonadal mice harboring amisfolded GnRHR mutant by pharmacoperone drug therapy.
Proc Natl Acad Sci U S A. 2013 Dec 24;110(52):21030-5. doi:10.1073/pnas.1315194110. Epub 2013 Dec 9. 2013.
Polejaeva I, Mitalipov S
Stem cell potency and the ability to contribute to chimeric organisms.
Reproduction. 2013 Mar 7;145(3):R81-8. doi: 10.1530/REP-12-0396. Print 2013 Mar1. 2013.
Tachibana M, Amato P, Sparman M, Gutierrez NM, Tippner-Hedges R, Ma H, Kang E, Fulati A, Lee HS, Sritanaudomchai H, Masterson K, Larson J, Eaton D, Sadler-Fredd K, Battaglia D, Lee D, Wu D, Jensen J, Patton P, Gokhale S, Stouffer RL, Wolf D, Mitalipov S
Human embryonic stem cells derived by somatic cell nuclear transfer.
Cell. 2013 Jun 6;153(6):1228-38. doi: 10.1016/j.cell.2013.05.006. Epub 2013 May15. 2013.
Tachibana M, Amato P, Sparman M, Woodward J, Sanchis DM, Ma H, Gutierrez NM, Tippner-Hedges R, Kang E, Lee HS, Ramsey C, Masterson K, Battaglia D, Lee D, Wu D, Jensen J, Patton P, Gokhale S, Stouffer R, Mitalipov S
Towards germline gene therapy of inherited mitochondrial diseases.
Nature. 2013 Jan 31;493(7434):627-31. doi: 10.1038/nature11647. Epub 2012 Oct 24. 2013.
2012
Hermann BP, Sukhwani M, Winkler F, Pascarella JN, Peters KA, Sheng Y, Valli H, Rodriguez M, Ezzelarab M, Dargo G, Peterson K, Masterson K, Ramsey C, Ward T, Lienesch M, Volk A, Cooper DK, Thomson AW, Kiss JE, Penedo MC, Schatten GP, Mitalipov S, Orwig KE
Spermatogonial stem cell transplantation into rhesus testes regeneratesspermatogenesis producing functional sperm.
Cell Stem Cell. 2012 Nov 2;11(5):715-26. doi: 10.1016/j.stem.2012.07.017. 2012.
Lee HS, Ma H, Juanes RC, Tachibana M, Sparman M, Woodward J, Ramsey C, Xu J, Kang EJ, Amato P, Mair G, Steinborn R, Mitalipov S
Rapid mitochondrial DNA segregation in primate preimplantation embryos precedessomatic and germline bottleneck.
Cell Rep. 2012 May 31;1(5):506-15. doi: 10.1016/j.celrep.2012.03.011. 2012.
Mao P, Gallagher P, Nedungadi S, Manczak M, Shirendeb UP, Kohama SG, Ferguson B, Park BS, Reddy PH
Mitochondrial DNA deletions and differential mitochondrial DNA content in Rhesus monkeys: implications for aging.
Biochim Biophys Acta. 2012 Feb;1822(2):111-9. doi: 10.1016/j.bbadis.2011.10.014. Epub 2011 Oct 28. 2012.
Mao P, Meshul CK, Thuillier P, Goldberg NR, Reddy PH
CART peptide is a potential endogenous antioxidant and preferentially localizedin mitochondria.
PLoS One. 2012;7(1):e29343. doi: 10.1371/journal.pone.0029343. Epub 2012 Jan 3. 2012.
Tachibana M, Ma H, Sparman ML, Lee HS, Ramsey CM, Woodward JS, Sritanaudomchai H, Masterson KR, Wolff EE, Jia Y, Mitalipov SM
X-chromosome inactivation in monkey embryos and pluripotent stem cells.
Dev Biol. 2012 Nov 15;371(2):146-55. doi: 10.1016/j.ydbio.2012.08.009. Epub 2012 Aug 23. 2012.
Tachibana M, Sparman M, Mitalipov S
Chromosome transfer in mature oocytes.
Fertil Steril. 2012 May;97(5):e16. doi: 10.1016/j.fertnstert.2012.03.048. 2012.
Tachibana M, Sparman M, Ramsey C, Ma H, Lee HS, Penedo MC, Mitalipov S
Generation of chimeric rhesus monkeys.
Cell. 2012 Jan 20;148(1-2):285-95. doi: 10.1016/j.cell.2011.12.007. Epub 2012 Jan5. 2012.
2010
Ben-Yehudah A, Easley CA 4th, Hermann BP, Castro C, Simerly C, Orwig KE, Mitalipov S, Schatten G
Systems biology discoveries using non-human primate pluripotent stem and germcells: novel gene and genomic imprinting interactions as well as unique expression patterns.
Stem Cell Res Ther. 2010 Aug 5;1(3):24. doi: 10.1186/scrt24. 2010.
Blin G, Nury D, Stefanovic S, Neri T, Guillevic O, Brinon B, Bellamy V, Rucker-Martin C, Barbry P, Bel A, Bruneval P, Cowan C, Pouly J, Mitalipov S, Gouadon E, Binder P, Hagege A, Desnos M, Renaud JF, Menasche P, Puceat M
A purified population of multipotent cardiovascular progenitors derived fromprimate pluripotent stem cells engrafts in postmyocardial infarcted nonhuman primates.
J Clin Invest. 2010 Apr;120(4):1125-39. doi: 10.1172/JCI40120. Epub 2010 Mar 24. 2010.
Sparman ML, Tachibana M, Mitalipov SM
Cloning of non-human primates: the road 'less traveled by'.
Int J Dev Biol. 2010;54(11-12):1671-8. doi: 10.1387/ijdb.103196ms. 2010.
Sritanaudomchai H, Ma H, Clepper L, Gokhale S, Bogan R, Hennebold J, Wolf D, Mitalipov S
Discovery of a novel imprinted gene by transcriptional analysis ofparthenogenetic embryonic stem cells.
Hum Reprod. 2010 Aug;25(8):1927-41. doi: 10.1093/humrep/deq144. Epub 2010 Jun 3. 2010.
2009
Cohen NM, Dighe V, Landan G, Reynisdottir S, Palsson A, Mitalipov S, Tanay A
DNA methylation programming and reprogramming in primate embryonic stem cells.
Genome Res. 2009 Dec;19(12):2193-201. doi: 10.1101/gr.096685.109. Epub 2009 Nov3. 2009.
Mitalipov S, Wolf D
Totipotency, pluripotency and nuclear reprogramming.
Adv Biochem Eng Biotechnol. 2009;114:185-99. doi: 10.1007/10_2008_45. 2009.
Schatten G, Mitalipov S
Developmental biology: Transgenic primate offspring.
Nature. 2009 May 28;459(7246):515-6. doi: 10.1038/459515a. 2009.
Sparman M, Dighe V, Sritanaudomchai H, Ma H, Ramsey C, Pedersen D, Clepper L, Nighot P, Wolf D, Hennebold J, Mitalipov S
Epigenetic reprogramming by somatic cell nuclear transfer in primates.
Stem Cells. 2009 Jun;27(6):1255-64. doi: 10.1002/stem.60. 2009.
Sritanaudomchai H, Sparman M, Tachibana M, Clepper L, Woodward J, Gokhale S, Wolf D, Hennebold J, Hurlbut W, Grompe M, Mitalipov S
CDX2 in the formation of the trophectoderm lineage in primate embryos.
Dev Biol. 2009 Nov 1;335(1):179-87. doi: 10.1016/j.ydbio.2009.08.025. Epub 2009Sep 3. 2009.
Tachibana M, Sparman M, Sritanaudomchai H, Ma H, Clepper L, Woodward J, Li Y, Ramsey C, Kolotushkina O, Mitalipov S
Mitochondrial gene replacement in primate offspring and embryonic stem cells.
Nature. 2009 Sep 17;461(7262):367-72. doi: 10.1038/nature08368. Epub 2009 Aug 26. 2009.