Publications by authors named "Anu Suomalainen"

100Publications

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

J Inherit Metab Dis 2020 Aug 28. Epub 2020 Aug 28.

Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/jimd.12307DOI Listing
August 2020

Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effect.

Life Sci Alliance 2020 Sep 31;3(9). Epub 2020 Jul 31.

Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland

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http://dx.doi.org/10.26508/lsa.202000797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7409372PMC
September 2020

Genetic background of ataxia in children younger than 5 years in Finland.

Neurol Genet 2020 Aug 5;6(4):e444. Epub 2020 Jun 5.

Department of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323479PMC
August 2020

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/acn3.51119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448145PMC
July 2020

Niacin Cures Systemic NAD Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.

Cell Metab 2020 Jun 7;31(6):1078-1090.e5. Epub 2020 May 7.

Research Program of Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00290, Finland; HUSlab, Helsinki University Hospital, Helsinki 00290, Finland; Neuroscience Center, HiLife, University of Helsinki, Helsinki 00290, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2020.04.008DOI Listing
June 2020

Attitudes towards genetic testing and information: does parenthood shape the views?

J Community Genet 2020 Oct 4;11(4):461-473. Epub 2020 Apr 4.

Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s12687-020-00462-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475141PMC
October 2020

Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.

J Clin Invest 2020 01;130(1):20-28

Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland.

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http://dx.doi.org/10.1172/JCI129202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934214PMC
January 2020

Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disorders.

Sci Rep 2019 11 5;9(1):16054. Epub 2019 Nov 5.

Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8577, Japan.

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http://dx.doi.org/10.1038/s41598-019-52372-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831688PMC
November 2019

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.

Cell Metab 2019 12 12;30(6):1040-1054.e7. Epub 2019 Sep 12.

Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; Department of Neurosciences, Helsinki University Central Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00290 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2019.08.019DOI Listing
December 2019

Mitochondrial DNA Inheritance in Humans: Mix, Match, and Survival of the Fittest.

Authors:
Anu Suomalainen

Cell Metab 2019 08;30(2):231-232

Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00290 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2019.07.009DOI Listing
August 2019

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

J Am Coll Cardiol 2018 11;72(19):2324-2338

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland; Department of Neurology, Helsinki University Hospital and Clinical Neurosciences, University of Helsinki, Helsinki, Finland; Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.08.2171DOI Listing
November 2018

Quantitative solid-phase assay to measure deoxynucleoside triphosphate pools.

Biol Methods Protoc 2018 11;3(1):bpy011. Epub 2018 Oct 11.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/biomethods/bpy011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994031PMC
October 2018

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

Neurogenetics 2018 05 26;19(2):133-134. Epub 2018 Feb 26.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10048-018-0542-zDOI Listing
May 2018

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

Mitochondrion 2019 03 19;45:38-45. Epub 2018 Feb 19.

Mitochondria Research Laboratory, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.003DOI Listing
March 2019

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

Neurogenetics 2018 01 19;19(1):49-53. Epub 2018 Jan 19.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10048-018-0537-9DOI Listing
January 2018

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.

Nat Commun 2018 01 4;9(1):70. Epub 2018 Jan 4.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Haartmaninkatu 8, University of Helsinki, Helsinki, 00014, Finland.

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http://www.nature.com/articles/s41467-017-01859-9
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http://dx.doi.org/10.1038/s41467-017-01859-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754366PMC
January 2018

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

Nat Rev Mol Cell Biol 2018 02 9;19(2):77-92. Epub 2017 Aug 9.

Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland.

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http://www.nature.com/doifinder/10.1038/nrm.2017.66
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http://dx.doi.org/10.1038/nrm.2017.66DOI Listing
February 2018

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.

Cell Metab 2017 Aug;26(2):419-428.e5

Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Neurology, Helsinki University Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00790 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2017.07.007DOI Listing
August 2017

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

Hum Mol Genet 2017 09;26(17):3352-3361

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki 00290, Finland.

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http://dx.doi.org/10.1093/hmg/ddx221DOI Listing
September 2017

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

Biochemistry 2017 03 23;56(9):1227-1238. Epub 2017 Feb 23.

Department of Physics, Tampere University of Technology , Tampere, Finland.

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http://dx.doi.org/10.1021/acs.biochem.6b00934DOI Listing
March 2017

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

Eur J Hum Genet 2017 02 21;25(3):366-370. Epub 2016 Dec 21.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2016.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5315520PMC
February 2017

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

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

From the Research Programs Unit, Molecular Neurology (J.M.L., S.F., H.L., M.A., P.I.), Faculty of Medicine/Clinicum, Oncology (P.O.), and Finland Genome Scale Biology Program (S.L.), University of Helsinki, Finland; Mitochondrial Medicine Group (E.B., C.V., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, UK; Center for Physiology and Pathophysiology (O.R.B., R.J.W.), Institute of Vegetative Physiology, University of Köln, Germany; Transplantation and Liver Surgery Clinic (H.I., K.H.), Department of Oncology (P.O., S.L.), and Heart and Lung Center, Department of Cardiology (T.H.), Helsinki University Hospital; School of Medicine (M.H., J.J., R.L.), University of Tampere; Anaesthesiology, Intensive Care and Pain Medicine (R.M.), Clinical Neurosciences, Neurology (H.L., M.A., A.S.), and Child Neurology, Children's Hospital (P.I.), University of Helsinki and Helsinki University Hospital, Finland; Dyslipidemia Center (G.M.), Cardiotoracovascular Department, Niguarda Hospital, Milan, Italy; PEDEGO Research Unit (J.U.) and Biocenter Oulu (J.U.), University of Oulu; Finnish Clinical Biobank Tampere (R.L.), Tampere University Hospital, Finland; Nijmegen Centre for Mitochondrial Disorders (J.S.), Radboud University Medical Centre, Nijmegen, the Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (R.J.W.), Köln; Center for Molecular Medicine Cologne (R.J.W.), CMMC, University of Köln, Germany; Faculty of Life and Environmental Sciences (K.N.), University of Tsukuba, Japan; and Medical Research Center Oulu (J.U.), Oulu University Hospital and University of Oulu, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270510PMC
November 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

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

Cell Metab 2016 Apr 25;23(4):635-48. Epub 2016 Feb 25.

Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Neurology, University of Helsinki, Helsinki University Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00790 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.01.019DOI Listing
April 2016

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

Am J Med Genet A 2016 06 17;170(6):1433-8. Epub 2016 Feb 17.

Department of Pediatric Cardiology, Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.37596DOI Listing
June 2016

Mitochondrial roles in disease: a box full of surprises.

Authors:
Anu Suomalainen

EMBO Mol Med 2015 Oct;7(10):1245-7

Research Programs Unit, Molecular Neurology, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.15252/emmm.201505350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604678PMC
October 2015

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

Methods Mol Biol 2016 ;1353:65-75

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/7651_2015_258DOI Listing
August 2016

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Neurology 2015 Jul 26;85(4):306-15. Epub 2015 Jun 26.

From the Department of Medical Genetics, Haartman Institute (A.-K.A., H.T.), Folkhälsan Institute of Genetics and Neuroscience Center (A.-K.A., A.L., A.-E.L.), Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (T.H., P.I., A.L., E.Y., A.-E.L.), University of Helsinki; Departments of Clinical Genetics (A.-K.A.) and Neurology (A.S.), Helsinki University Central Hospital; Department of Pediatric Neurology (T. Linnankivi, P.I., T. Lönnqvist, H.P.), Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Finland; Department of Biochemistry and Molecular Genetics (R.L.F., M. Simonović), University of Illinois at Chicago; Department of Molecular Biophysics and Biochemistry (Y.L., D.S.), Yale University, New Haven, CT; Norio Centre (M. Somer), Department of Medical Genetics, Helsinki, Finland; Turku Centre for Biotechnology (D.M.-P., G.L.C.), University of Turku and Åbo Akademi University; Department of Pediatric Neurology (M.L.), South Karelia Central Hospital, Lappeenranta; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki; and Department of Pathology (A.P.), HUSLAB and University of Helsinki, Finland. G.L.C. is currently affiliated with Van't Hoff Institute for Molecular Sciences, University of Amsterdam, the Netherlands.

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http://www.neurology.org/content/85/4/306.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000178
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http://dx.doi.org/10.1212/WNL.0000000000001787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520820PMC
July 2015

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

Cell Rep 2015 Jun 28;11(10):1614-24. Epub 2015 May 28.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland; Department of Neurology, Helsinki University Central Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00290 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509707PMC
June 2015

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

Invest Ophthalmol Vis Sci 2015 May;56(5):3371-82

Research Program of Molecular Neurology, Biomedicum 1, University of Helsinki, Helsinki, Finland 5Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1167/iovs.14-14007DOI Listing
May 2015

Stem cells, mitochondria and aging.

Biochim Biophys Acta 2015 Nov 23;1847(11):1380-6. Epub 2015 May 23.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.bbabio.2015.05.014DOI Listing
November 2015

Stem cells: Asymmetric rejuvenation.

Authors:
Anu Suomalainen

Nature 2015 May;521(7552):296-8

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki 00290, Finland.

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http://www.nature.com/doifinder/10.1038/521296a
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http://dx.doi.org/10.1038/521296aDOI Listing
May 2015

Impaired Mitochondrial Biogenesis in Adipose Tissue in Acquired Obesity.

Diabetes 2015 Sep 13;64(9):3135-45. Epub 2015 May 13.

Obesity Research Unit, Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland Abdominal Center, Endocrinology, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland

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http://diabetes.diabetesjournals.org/content/early/2015/05/1
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http://diabetes.diabetesjournals.org/content/64/9/3135.full.
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http://diabetes.diabetesjournals.org/lookup/doi/10.2337/db14
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http://dx.doi.org/10.2337/db14-1937DOI Listing
September 2015

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

Front Genet 2015 6;6:21. Epub 2015 Feb 6.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki Helsinki, Finland ; Department of Medical Genetics, Haartman Institute, University of Helsinki Helsinki, Finland.

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http://dx.doi.org/10.3389/fgene.2015.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319469PMC
February 2015

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

Neurology 2014 Aug 18;83(8):743-51. Epub 2014 Jul 18.

From the Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (S.A., P.I., L.E., V.B., H.T., A.S.), Institute for Molecular Medicine Finland (A.P.), Department of Medical Genetics, Haartman Institute (H.T.), and Neuroscience Center (A.S.), University of Helsinki; Department of Child Neurology, Children's Hospital (P.I., H.P., T. Lönnqvist), and Department of Neurology (A.S.), Helsinki University Central Hospital, Finland; Analytic and Translational Genetics Unit, Department of Medicine (A.P.), and Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry (A.P.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P.), Broad Institute of MIT and Harvard, Cambridge, MA; and Department of Pathology (T. Lehtonen, J.L.), University of Turku, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000000716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150129PMC
August 2014

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

Eur J Hum Genet 2015 Mar 2;23(3):325-30. Epub 2014 Jul 2.

1] Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland [2] Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland [3] Neuroscience center, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2014.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326715PMC
March 2015

Anu Suomalainen.

Authors:
Anu Suomalainen

Curr Biol 2014 May;24(10):R377-8

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http://dx.doi.org/10.1016/j.cub.2014.02.039DOI Listing
May 2014

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.

EMBO Mol Med 2014 Jun;6(6):721-31

Molecular Neurology, Research Programs Unit, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland Neuroscience Research Centre University of Helsinki, Helsinki, Finland

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http://dx.doi.org/10.1002/emmm.201403943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203351PMC
June 2014

Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species.

Proc Natl Acad Sci U S A 2013 Nov 11;110(48):19408-13. Epub 2013 Nov 11.

Department of Cardiac Development and Remodelling, Max Planck Institute for Heart and Lung Research, 61231 Bad Nauheim, Germany.

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http://dx.doi.org/10.1073/pnas.1303046110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845095PMC
November 2013

Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.

Proc Natl Acad Sci U S A 2013 Sep 3;110(38):E3622-30. Epub 2013 Sep 3.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00280, Helsinki, Finland.

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http://dx.doi.org/10.1073/pnas.1311660110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3780874PMC
September 2013

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

Brain 2013 Aug 27;136(Pt 8):2379-92. Epub 2013 Jun 27.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awt160DOI Listing
August 2013

Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders.

Authors:
Anu Suomalainen

Expert Opin Med Diagn 2013 Jul 20;7(4):313-7. Epub 2013 Jun 20.

University of Helsinki, Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland.

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http://dx.doi.org/10.1517/17530059.2013.812070DOI Listing
July 2013

Mitochondrial coenzyme Q10 determination by isotope-dilution liquid chromatography-tandem mass spectrometry.

Clin Chem 2013 Aug 2;59(8):1260-7. Epub 2013 May 2.

HUSLAB, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1373/clinchem.2012.200196DOI Listing
August 2013

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

J Med Genet 2013 Mar 12;50(3):151-9. Epub 2013 Jan 12.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, r.C523B, Haartmaninkatu 8, Helsinki 00290, Finland.

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http://dx.doi.org/10.1136/jmedgenet-2012-101375DOI Listing
March 2013

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

Hum Gene Ther 2012 Oct 13;23(10):1065-70. Epub 2012 Aug 13.

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1089/hum.2012.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472516PMC
October 2012

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

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

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/dds294DOI Listing
October 2012

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.

Pediatr Res 2012 Oct 13;72(4):432-7. Epub 2012 Jul 13.

Department of Pediatric Cardiology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2012.92DOI Listing
October 2012

Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts.

Stem Cells Dev 2013 Jan 30;22(1):114-23. Epub 2012 Jul 30.

Research Programs Unit, Molecular Neurology, Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland.

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https://www.liebertpub.com/doi/10.1089/scd.2012.0157
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http://dx.doi.org/10.1089/scd.2012.0157DOI Listing
January 2013

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

Pediatr Res 2012 Jul 27;72(1):90-4. Epub 2012 Mar 27.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/pr201243
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http://dx.doi.org/10.1038/pr.2012.43DOI Listing
July 2012

Mitochondria: in sickness and in health.

Cell 2012 Mar;148(6):1145-59

Department of Molecular and Cellular Biology, University of California, Davis, Davis, CA 95616, USA.

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http://dx.doi.org/10.1016/j.cell.2012.02.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381524PMC
March 2012

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

J Neurol Sci 2012 Apr 12;315(1-2):160-3. Epub 2011 Dec 12.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jns.2011.11.028DOI Listing
April 2012

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.

Hum Mol Genet 2012 Feb 19;21(3):526-35. Epub 2011 Oct 19.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, Helsinki 00290, Finland.

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http://dx.doi.org/10.1093/hmg/ddr482DOI Listing
February 2012

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

Genome Biol 2011 Sep 28;12(9):R94. Epub 2011 Sep 28.

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1186/gb-2011-12-9-r94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308057PMC
September 2011

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Nucleic Acids Res 2011 Nov 8;39(21):9072-84. Epub 2011 Aug 8.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/nar/gkr618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241644PMC
November 2011

Mechanisms of mitochondrial diseases.

Ann Med 2012 Feb 2;44(1):41-59. Epub 2011 Aug 2.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Finland.

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http://www.tandfonline.com/doi/full/10.3109/07853890.2011.59
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http://dx.doi.org/10.3109/07853890.2011.598547DOI Listing
February 2012

Therapy for mitochondrial disorders: little proof, high research activity, some promise.

Authors:
Anu Suomalainen

Semin Fetal Neonatal Med 2011 Aug 14;16(4):236-40. Epub 2011 Jun 14.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://linkinghub.elsevier.com/retrieve/pii/S1744165X1100051
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http://dx.doi.org/10.1016/j.siny.2011.05.003DOI Listing
August 2011

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

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

Research Program of Molecular Neurology, Biomedicum Helsinki, r.C523B, Haartmaninkatu 8, 00290 Helsinki, Finland.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2010-1326DOI Listing
February 2011

Biomarkers for mitochondrial respiratory chain disorders.

Authors:
Anu Suomalainen

J Inherit Metab Dis 2011 Apr 13;34(2):277-82. Epub 2010 Oct 13.

Research Program of Molecular Neurology, Biomedicum-Helsinki, r.C523B, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10545-010-9222-3DOI Listing
April 2011

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

Nucleic Acids Res 2010 Dec 19;38(22):8208-18. Epub 2010 Aug 19.

Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Haartmaninkatu 8, PO Box 63, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/nar/gkq735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001089PMC
December 2010

Mitochondrial myopathy induces a starvation-like response.

Hum Mol Genet 2010 Oct 23;19(20):3948-58. Epub 2010 Jul 23.

Research Program of Molecular Neurology, Biomedicum-Helsinki, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/ddq310DOI Listing
October 2010

CIP2A increases self-renewal and is linked to Myc in neural progenitor cells.

Differentiation 2010 Jul 5;80(1):68-77. Epub 2010 May 5.

Medical Biochemistry and Developmental Biology, Institute of Biomedicine, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.diff.2010.04.003DOI Listing
July 2010

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Neuromuscul Disord 2010 Jul 4;20(7):429-37. Epub 2010 May 4.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2010.03.017DOI Listing
July 2010

High mitochondrial DNA copy number has detrimental effects in mice.

Hum Mol Genet 2010 Jul 22;19(13):2695-705. Epub 2010 Apr 22.

Biomedicum Helsinki, Research Program of Molecular Neurology, University of Helsinki, and Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/ddq163DOI Listing
July 2010

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Neurosci Lett 2010 Jun 24;477(1):1-5. Epub 2010 Apr 24.

Department of Neurology, Helsinki University Central Hospital, FIN-00290 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neulet.2010.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905783PMC
June 2010

Mouse models of mtDNA replication diseases.

Methods 2010 Aug 10;51(4):405-10. Epub 2010 Apr 10.

Biomedicum Helsinki, Research Programme of Molecular Neurology, University of Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ymeth.2010.03.009DOI Listing
August 2010