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Items: 1 to 50 of 56

1.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Sainio MT, Ylikallio E, Mäenpää L, Lahtela J, Mattila P, Auranen M, Palmio J, Tyynismaa H.

Neurol Genet. 2018 Jun 5;4(3):e244. doi: 10.1212/NXG.0000000000000244. eCollection 2018 Jun.

2.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

3.

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Ylikallio E, Rahikkala E, Keski-Filppula R, Auranen M, Tyynismaa H.

Duodecim. 2017;133(7):683-7.

PMID:
29243459
4.

Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.

Hilander T, Zhou XL, Konovalova S, Zhang FP, Euro L, Chilov D, Poutanen M, Chihade J, Wang ED, Tyynismaa H.

Nucleic Acids Res. 2018 Jan 25;46(2):849-860. doi: 10.1093/nar/gkx1231.

5.

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Auranen M, Toppila J, Suriyanarayanan S, Lone MA, Paetau A, Tyynismaa H, Hornemann T, Ylikallio E.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002212. doi: 10.1101/mcs.a002212. Print 2017 Nov.

6.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
7.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H.

Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042.

8.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B.

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. No abstract available.

PMID:
27810918
9.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Piirilä P, Similä ME, Palmio J, Wuorimaa T, Ylikallio E, Sandell S, Haapalahti P, Uotila L, Tyynismaa H, Udd B, Auranen M.

Front Neurol. 2016 May 30;7:82. doi: 10.3389/fneur.2016.00082. eCollection 2016.

10.

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Linnankivi T, Neupane N, Richter U, Isohanni P, Tyynismaa H.

Hum Mutat. 2016 Sep;37(9):884-8. doi: 10.1002/humu.23021. Epub 2016 Jun 27.

PMID:
27279129
11.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

12.

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H.

Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun.

13.

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Nikkanen J, Forsström S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinamäki J, Roivainen A, Marjamäki P, Liljenbäck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, Lönnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A.

Cell Metab. 2016 Apr 12;23(4):635-48. doi: 10.1016/j.cmet.2016.01.019. Epub 2016 Feb 25.

14.

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E, Konovalova S, Dhungana Y, Hilander T, Junna N, Partanen JV, Toppila JP, Auranen M, Tyynismaa H.

BBA Clin. 2015 Mar 11;3:233-42. doi: 10.1016/j.bbacli.2015.03.002. eCollection 2015 Jun.

15.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
16.

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari PJ, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen M.

Acta Neurol Scand. 2016 May;133(5):361-6. doi: 10.1111/ane.12470. Epub 2015 Jul 30.

PMID:
26224640
17.

Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome.

Konovalova S, Hilander T, Loayza-Puch F, Rooijers K, Agami R, Tyynismaa H.

Int J Biochem Cell Biol. 2015 Aug;65:268-74. doi: 10.1016/j.biocel.2015.06.018. Epub 2015 Jun 25.

PMID:
26117454
18.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H.

Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26.

19.

Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress.

Ikeda M, Ide T, Fujino T, Arai S, Saku K, Kakino T, Tyynismaa H, Yamasaki T, Yamada K, Kang D, Suomalainen A, Sunagawa K.

PLoS One. 2015 Mar 30;10(3):e0119687. doi: 10.1371/journal.pone.0119687. eCollection 2015.

20.

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H.

Front Genet. 2015 Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015.

21.

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

22.

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL.

Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.

PMID:
25265257
23.

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A.

Neurology. 2014 Aug 19;83(8):743-51. doi: 10.1212/WNL.0000000000000716. Epub 2014 Jul 18.

24.

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Tyynismaa H, Schon EA.

EMBO Mol Med. 2014 Feb;6(2):155-7. doi: 10.1002/emmm.201303586. Epub 2014 Jan 28. Review.

25.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

26.

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice.

Tanaka A, Ide T, Fujino T, Onitsuka K, Ikeda M, Takehara T, Hata Y, Ylikallio E, Tyynismaa H, Suomalainen A, Sunagawa K.

PLoS One. 2013 Jun 28;8(6):e67642. doi: 10.1371/journal.pone.0067642. Print 2013.

27.

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.

Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H.

Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.

PMID:
23562820
28.

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PMID:
23456260
29.

Mitochondrial aminoacyl-tRNA synthetases in human disease.

Konovalova S, Tyynismaa H.

Mol Genet Metab. 2013 Apr;108(4):206-11. doi: 10.1016/j.ymgme.2013.01.010. Epub 2013 Jan 26. Review.

PMID:
23433712
30.

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A.

J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12.

PMID:
23315540
31.

Capsid-modified adenoviral vectors for improved muscle-directed gene therapy.

Guse K, Suzuki M, Sule G, Bertin TK, Tyynismaa H, Ahola-Erkkilä S, Palmer D, Suomalainen A, Ng P, Cerullo V, Hemminki A, Lee B.

Hum Gene Ther. 2012 Oct;23(10):1065-70. doi: 10.1089/hum.2012.003. Epub 2012 Aug 13.

32.

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A.

Hum Mol Genet. 2012 Oct 15;21(20):4521-9. Epub 2012 Jul 23.

PMID:
22833457
33.

Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice.

Ahlqvist KJ, Hämäläinen RH, Yatsuga S, Uutela M, Terzioglu M, Götz A, Forsström S, Salven P, Angers-Loustau A, Kopra OH, Tyynismaa H, Larsson NG, Wartiovaara K, Prolla T, Trifunovic A, Suomalainen A.

Cell Metab. 2012 Jan 4;15(1):100-9. doi: 10.1016/j.cmet.2011.11.012.

34.

Comparison of solution-based exome capture methods for next generation sequencing.

Sulonen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J.

Genome Biol. 2011 Sep 28;12(9):R94. doi: 10.1186/gb-2011-12-9-r94.

35.

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A.

Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21.

PMID:
21937588
36.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H.

Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3.

PMID:
21820356
37.

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins.

Robciuc MR, Naukkarinen J, Ortega-Alonso A, Tyynismaa H, Raivio T, Rissanen A, Kaprio J, Ehnholm C, Jauhiainen M, Pietiläinen KH.

J Lipid Res. 2011 Aug;52(8):1575-82. doi: 10.1194/jlr.P015867. Epub 2011 May 19.

38.

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A.

Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.

39.

Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.

Tyynismaa H, Raivio T, Hakkarainen A, Ortega-Alonso A, Lundbom N, Kaprio J, Rissanen A, Suomalainen A, Pietiläinen KH.

J Clin Endocrinol Metab. 2011 Feb;96(2):E351-5. doi: 10.1210/jc.2010-1326. Epub 2010 Dec 1.

PMID:
21123446
40.

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.

Ylikallio E, Page JL, Xu X, Lampinen M, Bepler G, Ide T, Tyynismaa H, Weiss RS, Suomalainen A.

Nucleic Acids Res. 2010 Dec;38(22):8208-18. doi: 10.1093/nar/gkq735. Epub 2010 Aug 19.

41.

Mitochondrial myopathy induces a starvation-like response.

Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, Ruhanen H, Guse K, Hemminki A, Peltola-Mjøsund KE, Tulkki V, Oresic M, Moraes CT, Pietiläinen K, Hovatta I, Suomalainen A.

Hum Mol Genet. 2010 Oct 15;19(20):3948-58. doi: 10.1093/hmg/ddq310. Epub 2010 Jul 23.

PMID:
20656789
42.

Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation.

Ruhanen H, Borrie S, Szabadkai G, Tyynismaa H, Jones AW, Kang D, Taanman JW, Yasukawa T.

Biochim Biophys Acta. 2010 Aug;1803(8):931-9. doi: 10.1016/j.bbamcr.2010.04.008. Epub 2010 Apr 28.

43.

High mitochondrial DNA copy number has detrimental effects in mice.

Ylikallio E, Tyynismaa H, Tsutsui H, Ide T, Suomalainen A.

Hum Mol Genet. 2010 Jul 1;19(13):2695-705. doi: 10.1093/hmg/ddq163. Epub 2010 Apr 22.

PMID:
20413656
44.

Mouse models of mtDNA replication diseases.

Tyynismaa H, Suomalainen A.

Methods. 2010 Aug;51(4):405-10. doi: 10.1016/j.ymeth.2010.03.009. Epub 2010 Apr 10. Review.

PMID:
20385238
45.

Ketogenic diet slows down mitochondrial myopathy progression in mice.

Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, Tulkki V, Mattila I, Seppänen-Laakso T, Oresic M, Tyynismaa H, Suomalainen A.

Hum Mol Genet. 2010 May 15;19(10):1974-84. doi: 10.1093/hmg/ddq076. Epub 2010 Feb 17.

PMID:
20167576
46.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

47.

Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks.

Pohjoismäki JL, Goffart S, Tyynismaa H, Willcox S, Ide T, Kang D, Suomalainen A, Karhunen PJ, Griffith JD, Holt IJ, Jacobs HT.

J Biol Chem. 2009 Aug 7;284(32):21446-57. doi: 10.1074/jbc.M109.016600. Epub 2009 Jun 12.

48.

Mouse models of mitochondrial DNA defects and their relevance for human disease.

Tyynismaa H, Suomalainen A.

EMBO Rep. 2009 Feb;10(2):137-43. doi: 10.1038/embor.2008.242. Epub 2009 Jan 16. Review.

49.

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.

Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN.

Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct 29.

50.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. Epub 2005 Nov 21.

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