Search Results - "ISOHANNI, Pirjo"

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease by Gut, Philipp, Matilainen, Sanna, Meyer, Jesse G., Pällijeff, Pieti, Richard, Joy, Carroll, Christopher J., Euro, Liliya, Jackson, Christopher B., Isohanni, Pirjo, Minassian, Berge A., Alkhater, Reem A., Østergaard, Elsebet, Civiletto, Gabriele, Parisi, Alice, Thevenet, Jonathan, Rardin, Matthew J., He, Wenjuan, Nishida, Yuya, Newman, John C., Liu, Xiaojing, Christen, Stefan, Moco, Sofia, Locasale, Jason W., Schilling, Birgit, Suomalainen, Anu, Verdin, Eric

“…Mitochondrial acyl-coenzyme A species are emerging as important sources of protein modification and damage. Succinyl-CoA ligase (SCL) deficiency causes a…”
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Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism by Nikkanen, Joni, Forsström, Saara, Euro, Liliya, Paetau, Ilse, Kohnz, Rebecca A., Wang, Liya, Chilov, Dmitri, Viinamäki, Jenni, Roivainen, Anne, Marjamäki, Päivi, Liljenbäck, Heidi, Ahola, Sofia, Buzkova, Jana, Terzioglu, Mügen, Khan, Nahid A., Pirnes-Karhu, Sini, Paetau, Anders, Lönnqvist, Tuula, Sajantila, Antti, Isohanni, Pirjo, Tyynismaa, Henna, Nomura, Daniel K., Battersby, Brendan J., Velagapudi, Vidya, Carroll, Christopher J., Suomalainen, Anu

“…Mitochondrial dysfunction affects cellular energy metabolism, but less is known about the consequences for cytoplasmic biosynthetic reactions. We report that…”
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Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients by Hovinen, Topi, Korkalo, Liisa, Freese, Riitta, Skaffari, Essi, Isohanni, Pirjo, Niemi, Mikko, Nevalainen, Jaakko, Gylling, Helena, Zamboni, Nicola, Erkkola, Maijaliisa, Suomalainen, Anu

“…Vegan diets are gaining popularity, also in families with young children. However, the effects of strict plant‐based diets on metabolism and micronutrient…”
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Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome by Matilainen, Sanna, Carroll, Christopher J, Richter, Uwe, Euro, Liliya, Pohjanpelto, Max, Paetau, Anders, Isohanni, Pirjo, Suomalainen, Anu

“…Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh…”
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Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome by Linnankivi, Tarja, Neupane, Nirajan, Richter, Uwe, Isohanni, Pirjo, Tyynismaa, Henna

“…ABSTRACT Mitochondrial aminoacyl‐tRNA synthetases are an important group of disease genes typically underlying either a disorder affecting an isolated tissue…”
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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia by Cooper, Helen M, Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen, Mari, Lönnqvist, Tuula, Wanrooij, Sjoerd, Tyynismaa, Henna

“…De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay,…”
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A multicenter study on Leigh syndrome: disease course and predictors of survival by Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas

“…Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation…”
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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number by Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.

“…Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4…”
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia by Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.

“…Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play…”
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Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients by Ahola, Sofia, Auranen, Mari, Isohanni, Pirjo, Niemisalo, Satu, Urho, Niina, Buzkova, Jana, Velagapudi, Vidya, Lundbom, Nina, Hakkarainen, Antti, Muurinen, Tiina, Piirilä, Päivi, Pietiläinen, Kirsi H, Suomalainen, Anu

“…Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is…”
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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia by Ylikallio, Emil, Kim, Doyoun, Isohanni, Pirjo, Auranen, Mari, Kim, Eunjoon, Lönnqvist, Tuula, Tyynismaa, Henna

“…Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations…”
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Attitudes towards genetic testing and information: does parenthood shape the views? by Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, Lönnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo

“…This study examines how parents of pediatric patients might differ in their views and attitudes towards genetic technology and information when compared to…”
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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability by Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L, Bell, Katrina M, Oshlack, Alicia, Lockhart, Paul J, Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, van der Pol, W Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, van Gassen, Koen L I, van den Boogaard, Marie-José H, Boycott, Kym M, Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna

“…Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal…”
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Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy by Vasilescu, Catalina, Isohanni, Pirjo, Palomäki, Maarit, Pihko, Helena, Suomalainen, Anu, Carroll, Christopher J

“…Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified…”
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A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions by Nikkanen, Joni, Landoni, Juan Cruz, Balboa, Diego, Haugas, Maarja, Partanen, Juha, Paetau, Anders, Isohanni, Pirjo, Brilhante, Virginia, Suomalainen, Anu

“…DNA polymerase gamma (POLG), the mtDNA replicase, is a common cause of mitochondrial neurodegeneration. Why POLG defects especially cause central nervous…”
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion by Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu

“…Mutations in SUCLA2, encoding the ß-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA depletion syndrome. Patients have…”
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Using urine to diagnose large‐scale mtDNA deletions in adult patients by Varhaug, Kristin N., Nido, Gonzalo S., Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.

“…Objective The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA…”
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study by Suomalainen, Anu, Prof, Elo, Jenni M, MB, Pietiläinen, Kirsi H, MD, Hakonen, Anna H, MD, Sevastianova, Ksenia, MD, Korpela, Mari, MD, Isohanni, Pirjo, MD, Marjavaara, Sanna K, PhD, Tyni, Tiina, MD, Kiuru-Enari, Sari, MD, Pihko, Helena, Prof, Darin, Niklas, MD, Õunap, Katrin, MD, Kluijtmans, Leo AJ, MD, Paetau, Anders, MD, Buzkova, Jana, MSc, Bindoff, Laurence A, Prof, Annunen-Rasila, Johanna, MD, Uusimaa, Johanna, MD, Rissanen, Aila, Prof, Yki-Järvinen, Hannele, Prof, Hirano, Michio, MD, Tulinius, Mar, Prof, Smeitink, Jan, Prof, Tyynismaa, Henna, PhD

“…Summary Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders because of the lack of sensitive biomarkers in serum. Fibroblast…”
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study by Parasyri, Maria, Brandström, Per, Uusimaa, Johanna, Ostergaard, Elsebet, Hikmat, Omar, Isohanni, Pirjo, Naess, Karin, de Coo, I.F.M., Nascimento Osorio, Andrés, Nuutinen, Matti, Lindberg, Christopher, Bindoff, Laurence A., Tulinius, Már, Darin, Niklas, Sofou, Kalliopi

“…Abstract Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as…”
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The impact of gender, puberty, and pregnancy in patients with POLG disease by Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

“…Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods…”
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