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Items: 1 to 50 of 198

1.

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.

McWilliams TG, Barini E, Pohjolan-Pirhonen R, Brooks SP, Singh F, Burel S, Balk K, Kumar A, Montava-Garriga L, Prescott AR, Hassoun SM, Mouton-Liger F, Ball G, Hills R, Knebel A, Ulusoy A, Di Monte DA, Tamjar J, Antico O, Fears K, Smith L, Brambilla R, Palin E, Valori M, Eerola-Rautio J, Tienari P, Corti O, Dunnett SB, Ganley IG, Suomalainen A, Muqit MMK.

Open Biol. 2018 Nov 7;8(11). pii: 180108. doi: 10.1098/rsob.180108.

2.

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A.

J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171.

PMID:
30384889
3.

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Buzkova J, Nikkanen J, Ahola S, Hakonen AH, Sevastianova K, Hovinen T, Yki-Järvinen H, Pietiläinen KH, Lönnqvist T, Velagapudi V, Carroll CJ, Suomalainen A.

EMBO Mol Med. 2018 Oct 29. pii: e9091. doi: 10.15252/emmm.201809091. [Epub ahead of print]

4.

Tape stripping alters the microbe-host correlations in mouse skin.

Karisola P, Suomalainen A, Fortino V, Ottman N, Vendelin J, Wolff HJ, Ruokolainen L, Greco D, Fyhrquist N, Alenius H.

Allergy. 2018 Oct 29. doi: 10.1111/all.13653. [Epub ahead of print] No abstract available.

PMID:
30372529
5.

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, Schaller A.

Hum Mol Genet. 2018 Oct 24. doi: 10.1093/hmg/ddy374. [Epub ahead of print]

PMID:
30358850
6.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW.

Hum Mol Genet. 2018 Oct 4. doi: 10.1093/hmg/ddy294. [Epub ahead of print]

PMID:
30285085
7.

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis.

Richter U, Evans ME, Clark WC, Marttinen P, Shoubridge EA, Suomalainen A, Wredenberg A, Wedell A, Pan T, Battersby BJ.

Nat Commun. 2018 Sep 27;9(1):3966. doi: 10.1038/s41467-018-06471-z.

8.

Soil exposure modifies the gut microbiota and supports immune tolerance in a mouse model.

Ottman N, Ruokolainen L, Suomalainen A, Sinkko H, Karisola P, Lehtimäki J, Lehto M, Hanski I, Alenius H, Fyhrquist N.

J Allergy Clin Immunol. 2018 Jul 31. pii: S0091-6749(18)30934-5. doi: 10.1016/j.jaci.2018.06.024. [Epub ahead of print]

PMID:
30097187
9.

Activity of rheumatoid arthritis correlates with oral inflammatory burden.

Äyräväinen L, Heikkinen AM, Kuuliala A, Ahola K, Koivuniemi R, Peltola J, Suomalainen A, Moilanen E, Hämäläinen M, Laasonen L, Meurman JH, Leirisalo-Repo M.

Rheumatol Int. 2018 Sep;38(9):1661-1669. doi: 10.1007/s00296-018-4108-z. Epub 2018 Jul 24.

PMID:
30043237
10.

Did malpractice claims for failed dental implants decrease after introduction of CBCT in Finland?

Marinescu Gava M, Suomalainen A, Vehmas T, Ventä I.

Clin Oral Investig. 2018 Apr 20. doi: 10.1007/s00784-018-2448-4. [Epub ahead of print]

PMID:
29679231
11.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

12.

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.

Neurogenetics. 2018 May;19(2):133-134. doi: 10.1007/s10048-018-0542-z. Epub 2018 Feb 26. No abstract available.

PMID:
29480378
13.

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Suomalainen A, Hakonen AH, Carroll CJ, Rodenburg RJ, de Laat PB, Janssen MCH, Smeitink JAM, Louw R.

Mitochondrion. 2018 Feb 19. pii: S1567-7249(17)30237-4. doi: 10.1016/j.mito.2018.02.003. [Epub ahead of print]

PMID:
29471047
14.

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.

Neurogenetics. 2018 Jan;19(1):49-53. doi: 10.1007/s10048-018-0537-9. Epub 2018 Jan 19.

PMID:
29350304
15.

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.

Ignatenko O, Chilov D, Paetau I, de Miguel E, Jackson CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A.

Nat Commun. 2018 Jan 4;9(1):70. doi: 10.1038/s41467-017-01859-9.

16.

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.

Nikkanen J, Landoni JC, Balboa D, Haugas M, Partanen J, Paetau A, Isohanni P, Brilhante V, Suomalainen A.

EMBO Mol Med. 2018 Jan;10(1):13-21. doi: 10.15252/emmm.201707993.

17.

Craniofacial and Dental Features in Six Children With Cherubism.

Stoor P, Suomalainen A, Kemola W, Arte S.

J Craniofac Surg. 2017 Oct;28(7):1806-1811. doi: 10.1097/SCS.0000000000003819.

PMID:
28857986
18.

Mitochondrial diseases: the contribution of organelle stress responses to pathology.

Suomalainen A, Battersby BJ.

Nat Rev Mol Cell Biol. 2018 Feb;19(2):77-92. doi: 10.1038/nrm.2017.66. Epub 2017 Aug 9. Review.

PMID:
28792006
19.

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.

Khan NA, Nikkanen J, Yatsuga S, Jackson C, Wang L, Pradhan S, Kivelä R, Pessia A, Velagapudi V, Suomalainen A.

Cell Metab. 2017 Aug 1;26(2):419-428.e5. doi: 10.1016/j.cmet.2017.07.007.

20.

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, Paetau A, Isohanni P, Suomalainen A.

Hum Mol Genet. 2017 Sep 1;26(17):3352-3361. doi: 10.1093/hmg/ddx221.

PMID:
28645153
21.

Atomistic Molecular Dynamics Simulations of Mitochondrial DNA Polymerase γ: Novel Mechanisms of Function and Pathogenesis.

Euro L, Haapanen O, Róg T, Vattulainen I, Suomalainen A, Sharma V.

Biochemistry. 2017 Mar 7;56(9):1227-1238. doi: 10.1021/acs.biochem.6b00934. Epub 2017 Feb 23.

PMID:
28206745
22.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.166. No abstract available.

23.

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

Vasilescu C, Isohanni P, Palomäki M, Pihko H, Suomalainen A, Carroll CJ.

Eur J Hum Genet. 2017 Feb;25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21.

24.

Rapid prototyped patient specific guiding implants in critical mandibular reconstruction.

Stoor P, Suomalainen A, Mesimäki K, Kontio R.

J Craniomaxillofac Surg. 2017 Jan;45(1):63-70. doi: 10.1016/j.jcms.2016.10.021. Epub 2016 Nov 5.

PMID:
27923534
25.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW.

Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.001. No abstract available.

26.

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L.

Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19.

PMID:
27838048
27.

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.

Ahola S, Auranen M, Isohanni P, Niemisalo S, Urho N, Buzkova J, Velagapudi V, Lundbom N, Hakkarainen A, Muurinen T, Piirilä P, Pietiläinen KH, Suomalainen A.

EMBO Mol Med. 2016 Nov 2;8(11):1234-1247. doi: 10.15252/emmm.201606592. Print 2016 Nov.

28.

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A.

Neurology. 2016 Nov 29;87(22):2290-2299. Epub 2016 Oct 28.

29.

CT of facial fracture fixation: an experimental study of artefact reducing methods.

Peltola EM, Mäkelä T, Haapamäki V, Suomalainen A, Leikola J, Koskinen SK, Kortesniemi M, Koivikko MP.

Dentomaxillofac Radiol. 2017 Feb;46(2):20160261. doi: 10.1259/dmfr.20160261. Epub 2016 Oct 27.

30.

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM.

Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Review.

PMID:
27775730
31.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1405.

32.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

33.

Malpractice claims related to tooth extractions.

Koskela S, Suomalainen A, Apajalahti S, Ventä I.

Clin Oral Investig. 2017 Mar;21(2):519-522. doi: 10.1007/s00784-016-1896-y. Epub 2016 Aug 10.

PMID:
27511213
34.

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.

35.

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Hiippala A, Vasilescu C, Tallila J, Alastalo TP, Paetau A, Tyni T, Suomalainen A, Euro L, Ojala T.

Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17.

PMID:
26888048
36.

USF1 deficiency activates brown adipose tissue and improves cardiometabolic health.

Laurila PP, Soronen J, Kooijman S, Forsström S, Boon MR, Surakka I, Kaiharju E, Coomans CP, Van Den Berg SA, Autio A, Sarin AP, Kettunen J, Tikkanen E, Manninen T, Metso J, Silvennoinen R, Merikanto K, Ruuth M, Perttilä J, Mäkelä A, Isomi A, Tuomainen AM, Tikka A, Ramadan UA, Seppälä I, Lehtimäki T, Eriksson J, Havulinna A, Jula A, Karhunen PJ, Salomaa V, Perola M, Ehnholm C, Lee-Rueckert M, Van Eck M, Roivainen A, Taskinen MR, Peltonen L, Mervaala E, Jalanko A, Hohtola E, Olkkonen VM, Ripatti S, Kovanen PT, Rensen PC, Suomalainen A, Jauhiainen M.

Sci Transl Med. 2016 Jan 27;8(323):323ra13. doi: 10.1126/scitranslmed.aad0015.

PMID:
26819196
37.

Ultrasonographic localization of the thyroid gland for its optimal shielding prior to lateral cephalometric radiography: a pilot study.

Pakbaznejad Esmaeili E, Hurmerinta K, Rice D, Suomalainen A.

Dentomaxillofac Radiol. 2016;45(3):20150341. doi: 10.1259/dmfr.20150341. Epub 2016 Feb 3.

38.

Rapid prototyping modelling in oral and maxillofacial surgery: A two year retrospective study.

Suomalainen A, Stoor P, Mesimäki K, Kontio RK.

J Clin Exp Dent. 2015 Dec 1;7(5):e605-12. doi: 10.4317/jced.52556. eCollection 2015 Dec.

39.

Women in Metabolism: Part 3.

Ashcroft F, Pearce E, Partridge L, Suomalainen A, Brunet A, Schulze A, Tseng YH, Sethi JK, Reue K, Kingwell B, McNally E, Cnop M, Hevener AL, Diano S.

Cell Metab. 2015 Dec 1;22(6):949-53. doi: 10.1016/j.cmet.2015.11.005.

40.

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.

Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S, von Sarnowski B, Amaral-Silva A, Jungehulsing GJ, Tanislav C, Thijs V, Rolfs A, Norrving B, Fazekas F, Suomalainen A, Kolodny EH.

J Neurol. 2016 Feb;263(2):257-262. doi: 10.1007/s00415-015-7969-z. Epub 2015 Nov 14.

PMID:
26566914
41.

Dental cone beam CT: A review.

Kiljunen T, Kaasalainen T, Suomalainen A, Kortesniemi M.

Phys Med. 2015 Dec;31(8):844-860. doi: 10.1016/j.ejmp.2015.09.004. Epub 2015 Oct 23. Review.

PMID:
26481816
42.

Mitochondrial roles in disease: a box full of surprises.

Suomalainen A.

EMBO Mol Med. 2015 Oct;7(10):1245-7. doi: 10.15252/emmm.201505350. No abstract available.

43.

Generation and Characterization of Induced Pluripotent Stem Cells from Patients with mtDNA Mutations.

Hämäläinen RH, Suomalainen A.

Methods Mol Biol. 2016;1353:65-75. doi: 10.1007/7651_2015_258.

PMID:
26187202
44.

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.

45.

mtDNA Mutagenesis Disrupts Pluripotent Stem Cell Function by Altering Redox Signaling.

Hämäläinen RH, Ahlqvist KJ, Ellonen P, Lepistö M, Logan A, Otonkoski T, Murphy MP, Suomalainen A.

Cell Rep. 2015 Jun 16;11(10):1614-24. doi: 10.1016/j.celrep.2015.05.009. Epub 2015 May 28.

46.

Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Polinati PP, Ilmarinen T, Trokovic R, Hyotylainen T, Otonkoski T, Suomalainen A, Skottman H, Tyni T.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3371-82. doi: 10.1167/iovs.14-14007.

PMID:
26024122
47.

Stem cells, mitochondria and aging.

Ahlqvist KJ, Suomalainen A, Hämäläinen RH.

Biochim Biophys Acta. 2015 Nov;1847(11):1380-6. doi: 10.1016/j.bbabio.2015.05.014. Epub 2015 May 23. Review.

48.

Stem cells: Asymmetric rejuvenation.

Suomalainen A.

Nature. 2015 May 21;521(7552):296-8. doi: 10.1038/521296a. No abstract available.

PMID:
25993956
49.

Impaired Mitochondrial Biogenesis in Adipose Tissue in Acquired Obesity.

Heinonen S, Buzkova J, Muniandy M, Kaksonen R, Ollikainen M, Ismail K, Hakkarainen A, Lundbom J, Lundbom N, Vuolteenaho K, Moilanen E, Kaprio J, Rissanen A, Suomalainen A, Pietiläinen KH.

Diabetes. 2015 Sep;64(9):3135-45. doi: 10.2337/db14-1937. Epub 2015 May 13.

50.

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.

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