Stem Cells and Metabolism Research Program

Publications 2018 2019

2019

A comparative map of macroautophagy and mitophagy in the vertebrate eye

McWilliams, T., Alan R., P., Villarejo-Zori, B., Ball, G., Boya, P. & Ganley, I. G., 21 Feb 2019, In : Autophagy. p. 1 13 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Esterhuizen, K., Lindeque, J. Z., Mason, S., van der Westhuizen, F. H., Suomalainen, A., Hakonen, A. H., Carroll, C. J., Rodenburg, R. J., de Laat, P. B., Janssen, M. C. H., Smeitink, J. A. M. & Louw, R., Mar 2019, In : Mitochondrion. 45, p. 38-45 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Jackson, C. B., Huemer, M., Bolognini, R., Martin, F., Szinnai, G., Donner, B. C., Richter, U., Battersby, B. J., Nuoffer, J-M., Suomalainen, A. & Schaller, A., 15 Feb 2019, In : Human Molecular Genetics. 28, 4, p. 639-649 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

Hytönen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P. & Lohi, H., May 2019, In : Human Genetics. 138, 5, p. 525-533 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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Concise Review: Human Pluripotent Stem Cells for the Modeling of Pancreatic beta-Cell Pathology

Balboa, D., Saarimaki-Vire, J. & Otonkoski, T., Jan 2019, In : Stem Cells. 37, 1, p. 33-41 9 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells

Chung, J. E., Magis, W., Vu, J., Heo, S-J., Wartiovaara, K., Walters, M. C., Kurita, R., Nakamura, Y., Boffelli, D., Martin, D. I. K., Corn, J. E. & Dewitt, M. A., 15 Jan 2019, In : PLoS One. 14, 1, 17 p., 0208237.

Research output: Contribution to journalArticleScientificpeer-review

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Fate of a father's mitochondria

McWilliams, T. G. & Suomalainen, A., 17 Jan 2019, In : Nature. 565, 7739, p. 296-297 2 p.

Research output: Contribution to journalEditorialScientific

Immunomodulatory effects of antipsychotic treatment on gene expression in first-episode psychosis

Mantere, O., Trontti, K., Garcia-Gonzalez, J., Balcells, I., Saarnio, S., Mäntylä, T., Lindgren, M., Kieseppa, T., Raij, T., Honkanen, J. K., Vaarala, O., Hovatta, I. & Suvisaari, J., Feb 2019, In : Journal of Psychiatric Research. 109, p. 18-26 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Sommerville, E. W., Zhou, X-L., Olahova, M., Jenkins, J., Euro, L., Konovalova, S., Hilander, T., Pyle, A., He, L., Habeebu, S., Saunders, C., Kelsey, A., Morris, A. A. M., McFarland, R., Suomalainen, A., Gorman, G. S., Wang, E-D., Thiffault, I., Tyynismaa, H. & Taylor, R. W., 15 Jan 2019, In : Human Molecular Genetics. 28, 2, p. 258-268 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Moving out but keeping in touch: contacts between endoplasmic reticulum and lipid droplets

Salo, V. T. & Ikonen, E., Apr 2019, In : Current Opinion in Cell Biology. 57, p. 64-70 7 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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New Insights Into Monogenic Causes of Osteoporosis

Mäkitie, R. E., Costantini, A., Kämpe, A., Alm, J. J. & Mäkitie, O., 25 Feb 2019, In : Frontiers in Endocrinology. 10, 15 p., 70.

Research output: Contribution to journalReview ArticleScientificpeer-review

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Nuclear factor E2-related factor 2 deficiency impairs atherosclerotic lesion development but promotes features of plaque instability in hypercholesterolaemic mice

Ruotsalainen, A-K., Lappalainen, J. P., Heiskanen, E., Merentie, M., Sihvola, V., Näpänkangas, J., Lottonen-Raikaslehto, L., Kansanen, E., Adinolfi, S., Kaarniranta, K., Ylä-Herttuala, S., Jauhiainen, M., Pirinen, E. & Levonen, A-L., 1 Jan 2019, In : Cardiovascular Research. 115, 1, p. 243-254 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

Iivonen, A-P., Känsäkoski, J., Vaaralahti, K. & Raivio, T., May 2019, In : Endocrine Connections. 8, 5, p. 506-509 4 p.

Research output: Contribution to journalArticleScientificpeer-review

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Self-Assembled Networks of Short and Long Chitin Nanoparticles for Oil/Water Interfacial Superstabilization

Bai, L., Huan, S., Xiang, W., Liu, L., Yang, Y., Nugroho, R. W. N., Fan, Y. & Rojas, O. J., 1 Apr 2019, In : ACS Sustainable Chemistry & Engineering. 7, 7, p. 6497-6511 29 p.

Research output: Contribution to journalArticleScientificpeer-review

The metabolic and molecular consequences of mitochondrial dysfunction in mitochondrial disease and acquired obesity

Buzkova, J., Feb 2019, Helsinki: University of Helsinki. 98 p.

Research output: ThesisDoctoral ThesisCollection of Articles

The plasticity of mesenchymal stem cells in regulating surface HLA-I

Wang, Y., Huang, J., Gong, L., Yu, D., An, C., Bunpetch, V., Dai, J., Huang, H., Zou, X., Ouyang, H. & Liu, H., 11 Apr 2019, In : iScience.

Research output: Contribution to journalArticleScientificpeer-review

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2018

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

Sainio, M. T., Ylikallio, E., Mäenpää, L., Lahtela, J. S. P., Mattila, P. M., Auranen, M., Palmio, J. & Tyynismaa, H., 5 Jun 2018, In : Neurology Genetics. 4, 3, 10 p., e244.

Research output: Contribution to journalArticleScientificpeer-review

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Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady‐State Levels, and Assembled OXPHOS Complexes

Hilander, T., Konovalova, S., Terzioglu, M. & Tyynismaa, H., 31 Jul 2018, In : Current Protocols in Toxicology. 77, 1, e56.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Computational framework for targeted high-coverage sequencing based NIPT

Teder, H., Paluoja, P., Salumets, A., Krjutškov, K. & Palta, P., 1 Jan 2018, (Submitted) In : bioRxiv : the preprint server for biology .

Research output: Contribution to journalArticleScientific

Metabolomic characterization of canine behavioural disorders : fearfulness and hyperactivity/impulsivity

Puurunen, J., 2018, Helsinki: Helsingin yliopisto. 72 p.

Research output: ThesisDoctoral ThesisCollection of Articles

Quantitative solid-phase assay to measure deoxynucleoside triphosphate pools

Landoni, J. C., Wang, L. & Suomalainen, A., 11 Oct 2018, In : Biology methods & protocols. 3, 1, 6 p., bpy011.

Research output: Contribution to journalArticleScientificpeer-review

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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Sainio, M. T., Välipakka, S., Rinaldi, B., Lapatto, H., Paetau, A., Ojanen, S., Brilhante, V., Jokela, M., Huovinen, S., Auranen, M., Palmio, J., Friant, S., Ylikallio, E., Udd, B. & Tyynismaa, H., 4 Dec 2018, In : Journal of Neurology. p. 353-360 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

Dürig, N., Letko, A., Lepori, V., Rasouliha, S. H., Loechel, R., Kehl, A., Hytönen, M. K., Lohi, H., Mauri, N., Dietrich, J., Wiedmer, M., Drogemuller, M., Jagannathan, V., Schmutz, S. M. & Leeb, T., Aug 2018, In : Animal Genetics. 49, 4, p. 284-290 7 p.

Research output: Contribution to journalArticleScientificpeer-review