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Items: 1 to 20 of 55

1.

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.

2.

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
3.

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.

4.

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.

5.

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
6.

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.

7.

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
8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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
15.

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
16.

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
17.

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.

18.

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.

19.

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.

20.

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.

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