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Management options and parental voice in the treatment of trisomy 13 and 18.

Pyle AK, Fleischman AR, Hardart G, Mercurio MR.

J Perinatol. 2018 Jul 6. doi: 10.1038/s41372-018-0151-6. [Epub ahead of print] No abstract available.


microRNA-122 amplifies hepatitis C virus translation by shaping the structure of the internal ribosomal entry site.

Schult P, Roth H, Adams RL, Mas C, Imbert L, Orlik C, Ruggieri A, Pyle AM, Lohmann V.

Nat Commun. 2018 Jul 4;9(1):2613. doi: 10.1038/s41467-018-05053-3.


Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Apr 19. doi: 10.1038/s41556-018-0064-9. [Epub ahead of print]


Suicide Prevention for School Communities: An Educational Initiative for Student Safety.

Roberts DC, Taylor ME, Pyle AD.

NASN Sch Nurse. 2018 May;33(3):168-176. doi: 10.1177/1942602X18766499.


Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN.

Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080.


Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Mar 8. doi: 10.1038/gim.2017.251. [Epub ahead of print]


A minimal RNA ligand for potent RIG-I activation in living mice.

Linehan MM, Dickey TH, Molinari ES, Fitzgerald ME, Potapova O, Iwasaki A, Pyle AM.

Sci Adv. 2018 Feb 21;4(2):e1701854. doi: 10.1126/sciadv.1701854. eCollection 2018 Feb.


A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.


Environmentally Triggerable Retinoic Acid-Inducible Gene I Agonists Using Synthetic Polymer Overhangs.

Palmer CR, Jacobson ME, Fedorova O, Pyle AM, Wilson JT.

Bioconjug Chem. 2018 Mar 21;29(3):742-747. doi: 10.1021/acs.bioconjchem.7b00697. Epub 2018 Jan 19.


Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WCW, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Feb;20(2):144-151. doi: 10.1038/s41556-017-0017-8. Epub 2018 Jan 15. Erratum in: Nat Cell Biol. 2018 Apr 19;:.


Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. No abstract available.


ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs.

Hicks MR, Hiserodt J, Paras K, Fujiwara W, Eskin A, Jan M, Xi H, Young CS, Evseenko D, Nelson SF, Spencer MJ, Handel BV, Pyle AD.

Nat Cell Biol. 2018 Jan;20(1):46-57. doi: 10.1038/s41556-017-0010-2. Epub 2017 Dec 18.


Lessons Learned from 78 Long Days in the NICU.

Pyle A.

Narrat Inq Bioeth. 2017;7(3):192-194. doi: 10.1353/nib.2017.0060. No abstract available.


Narrative Symposium: Challenges With Care During Labor and Delivery.

Morrell E, Johnson N, Echegaray L, Fairchild K, Pyle A, Mckee EE, Tillinger E, Diaz-Tello F, Knowlton S, Kracen A, Rendina N, Terlizzi K, Rand K, Lebedevitch C.

Narrat Inq Bioeth. 2017;7(3):182-E6. doi: 10.1353/nib.2017.0075. No abstract available.


Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease.

Bury AG, Pyle A, Elson JL, Greaves L, Morris CM, Hudson G, Pienaar IS.

Ann Neurol. 2017 Dec;82(6):1016-1021. doi: 10.1002/ana.25099. Epub 2017 Dec 4.


An ultraprocessive, accurate reverse transcriptase encoded by a metazoan group II intron.

Zhao C, Liu F, Pyle AM.

RNA. 2018 Feb;24(2):183-195. doi: 10.1261/rna.063479.117. Epub 2017 Nov 6.


NS3 from Hepatitis C Virus Strain JFH-1 Is an Unusually Robust Helicase That Is Primed To Bind and Unwind Viral RNA.

Zhou T, Ren X, Adams RL, Pyle AM.

J Virol. 2017 Dec 14;92(1). pii: e01253-17. doi: 10.1128/JVI.01253-17. Print 2018 Jan 1.


The SMAD3 transcription factor binds complex RNA structures with high affinity.

Dickey TH, Pyle AM.

Nucleic Acids Res. 2017 Nov 16;45(20):11980-11988. doi: 10.1093/nar/gkx846.


Structural basis for IL-1α recognition by a modified DNA aptamer that specifically inhibits IL-1α signaling.

Ren X, Gelinas AD, von Carlowitz I, Janjic N, Pyle AM.

Nat Commun. 2017 Oct 9;8(1):810. doi: 10.1038/s41467-017-00864-2.


Differentiation of RPE cells from integration-free iPS cells and their cell biological characterization.

Hazim RA, Karumbayaram S, Jiang M, Dimashkie A, Lopes VS, Li D, Burgess BL, Vijayaraj P, Alva-Ornelas JA, Zack JA, Kohn DB, Gomperts BN, Pyle AD, Lowry WE, Williams DS.

Stem Cell Res Ther. 2017 Oct 2;8(1):217. doi: 10.1186/s13287-017-0652-9.


De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.

Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW.

Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.


RNA Structural Variability and Functional Versatility Challenge RNA Structural Modeling and Design.

Schlick T, Pyle A.

Biophys J. 2017 Jul 25;113(2):E1-E2. doi: 10.1016/j.bpj.2017.06.040. Epub 2017 Jun 29. No abstract available.


Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

Widdrington JD, Gomez-Duran A, Steyn JS, Pyle A, Ruchaud-Sparagano MH, Scott J, Baudouin SV, Rostron AJ, Simpson J, Chinnery PF.

J Allergy Clin Immunol. 2017 Nov;140(5):1461-1464.e8. doi: 10.1016/j.jaci.2017.04.048. Epub 2017 Jun 17. No abstract available.


The group II intron maturase: a reverse transcriptase and splicing factor go hand in hand.

Zhao C, Pyle AM.

Curr Opin Struct Biol. 2017 Dec;47:30-39. doi: 10.1016/ Epub 2017 May 18. Review.


Functional RNA structures throughout the Hepatitis C Virus genome.

Adams RL, Pirakitikulr N, Pyle AM.

Curr Opin Virol. 2017 Jun;24:79-86. doi: 10.1016/j.coviro.2017.04.007. Epub 2017 May 13. Review.


Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy.

Young CS, Mokhonova E, Quinonez M, Pyle AD, Spencer MJ.

J Neuromuscul Dis. 2017;4(2):139-145. doi: 10.3233/JND-170218.


Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.


Structural Insights into the Mechanism of Group II Intron Splicing.

Zhao C, Pyle AM.

Trends Biochem Sci. 2017 Jun;42(6):470-482. doi: 10.1016/j.tibs.2017.03.007. Epub 2017 Apr 21. Review.


metabolic profiling of Parkinson's disease and mild cognitive impairment.

Burté F, Houghton D, Lowes H, Pyle A, Nesbitt S, Yarnall A, Yu-Wai-Man P, Burn DJ, Santibanez-Koref M, Hudson G.

Mov Disord. 2017 Jun;32(6):927-932. doi: 10.1002/mds.26992. Epub 2017 Apr 10.


Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.


Selective RNA targeting and regulated signaling by RIG-I is controlled by coordination of RNA and ATP binding.

Fitzgerald ME, Rawling DC, Potapova O, Ren X, Kohlway A, Pyle AM.

Nucleic Acids Res. 2017 Feb 17;45(3):1442-1454. doi: 10.1093/nar/gkw816.


In Vivo Human Somitogenesis Guides Somite Development from hPSCs.

Xi H, Fujiwara W, Gonzalez K, Jan M, Liebscher S, Van Handel B, Schenke-Layland K, Pyle AD.

Cell Rep. 2017 Feb 7;18(6):1573-1585. doi: 10.1016/j.celrep.2017.01.040.


Opportunities and Challenges in RNA Structural Modeling and Design.

Schlick T, Pyle AM.

Biophys J. 2017 Jul 25;113(2):225-234. doi: 10.1016/j.bpj.2016.12.037. Epub 2017 Feb 2.


Visualizing the secondary and tertiary architectural domains of lncRNA RepA.

Liu F, Somarowthu S, Pyle AM.

Nat Chem Biol. 2017 Mar;13(3):282-289. doi: 10.1038/nchembio.2272. Epub 2017 Jan 9.


Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.

Lee PC, Truong B, Vega-Crespo A, Gilmore WB, Hermann K, Angarita SA, Tang JK, Chang KM, Wininger AE, Lam AK, Schoenberg BE, Cederbaum SD, Pyle AD, Byrne JA, Lipshutz GS.

Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e394. doi: 10.1038/mtna.2016.98.


Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.


Exon Skipping Therapy.

Young CS, Pyle AD.

Cell. 2016 Nov 17;167(5):1144. doi: 10.1016/j.cell.2016.10.050.


Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.


Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF.

Neurol Genet. 2016 Oct 31;2(6):e110. eCollection 2016 Dec.


A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems.

Hughes AJ, Steele HE, Pyle A, Hart Y, Quinton R, Chinnery PF.

JAMA Neurol. 2016 Dec 1;73(12):1494-1495. doi: 10.1001/jamaneurol.2016.3613. No abstract available.


Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease.

Pyle A, Lowes H, Brennan R, Kurzawa-Akanbi M, Yarnall A, Burn D, Hudson G.

Mov Disord. 2016 Dec;31(12):1923-1924. doi: 10.1002/mds.26825. Epub 2016 Oct 18. No abstract available.


Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

Oliveira R, Sommerville EW, Thompson K, Nunes J, Pyle A, Grazina M, Chinnery PF, Diogo L, Garcia P, Taylor RW.

JIMD Rep. 2017;33:61-68. doi: 10.1007/8904_2016_581. Epub 2016 Aug 30.


Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.013. No abstract available.


Group II Intron Self-Splicing.

Pyle AM.

Annu Rev Biophys. 2016 Jul 5;45:183-205. doi: 10.1146/annurev-biophys-062215-011149. Review.


Transcriptome analysis of human cumulus cells reveals hypoxia as the main determinant of follicular senescence.

Molinari E, Bar H, Pyle AM, Patrizio P.

Mol Hum Reprod. 2016 Aug;22(8):866-76. doi: 10.1093/molehr/gaw038. Epub 2016 Jun 6.


Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.


Crystal structures of a group II intron maturase reveal a missing link in spliceosome evolution.

Zhao C, Pyle AM.

Nat Struct Mol Biol. 2016 Jun;23(6):558-65. doi: 10.1038/nsmb.3224. Epub 2016 May 2.


Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28.


Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr.

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