Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

por Tyynismaa, Henna, Schon, Eric A
Publicado 2014

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

por Goffart, Steffi, Cooper, Helen M., Tyynismaa, Henna, Wanrooij, Sjoerd, Suomalainen, Anu, Spelbrink, Johannes N.
Publicado 2009

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

por Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna
Publicado 2015

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

por Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna
Publicado 2018

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

por Auranen, Mari, Toppila, Jussi, Suriyanarayanan, Saranya, Lone, Museer A., Paetau, Anders, Tyynismaa, Henna, Hornemann, Thorsten, Ylikallio, Emil
Publicado 2017

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

por Ylikallio, Emil, Page, Jennifer L., Xu, Xia, Lampinen, Milla, Bepler, Gerold, Ide, Tomomi, Tyynismaa, Henna, Weiss, Robert S., Suomalainen, Anu
Publicado 2010

Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle

por Neupane, Nirajan, Rajendran, Jayasimman, Kvist, Jouni, Harjuhaahto, Sandra, Hu, Bowen, Kinnunen, Veijo, Yang, Yang, Nieminen, Anni I., Tyynismaa, Henna
Publicado 2022

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

por Ylikallio, Emil, Konovalova, Svetlana, Dhungana, Yogesh, Hilander, Taru, Junna, Nella, Partanen, Juhani V., Toppila, Jussi P., Auranen, Mari, Tyynismaa, Henna
Publicado 2015

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

por Palu, Edouard, Järvilehto, Julius, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Isohanni, Pirjo, Tyynismaa, Henna, Auranen, Mari, Ylikallio, Emil
Publicado 2023

The Overexpression of Twinkle Helicase Ameliorates the Progression of Cardiac Fibrosis and Heart Failure in Pressure Overload Model in Mice

por Tanaka, Atsushi, Ide, Tomomi, Fujino, Takeo, Onitsuka, Ken, Ikeda, Masataka, Takehara, Takako, Hata, Yuko, Ylikallio, Emil, Tyynismaa, Henna, Suomalainen, Anu, Sunagawa, Kenji
Publicado 2013

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

por Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Publicado 2015

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

por Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, Lönnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo
Publicado 2020

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

por Sutinen, Aleksi, Nguyen, Giang Thi Tuyet, Raasakka, Arne, Muruganandam, Gopinath, Loris, Remy, Ylikallio, Emil, Tyynismaa, Henna, Bartesaghi, Luca, Ruskamo, Salla, Kursula, Petri
Publicado 2022

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

por Piirilä, Päivi, Similä, Minna E., Palmio, Johanna, Wuorimaa, Tomi, Ylikallio, Emil, Sandell, Satu, Haapalahti, Petri, Uotila, Lasse, Tyynismaa, Henna, Udd, Bjarne, Auranen, Mari
Publicado 2016

Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria

por Hilander, Taru, Zhou, Xiao-Long, Konovalova, Svetlana, Zhang, Fu-Ping, Euro, Liliya, Chilov, Dmitri, Poutanen, Matti, Chihade, Joseph, Wang, En-Duo, Tyynismaa, Henna
Publicado 2018

Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone

por Konovalova, Svetlana, Liu, Xiaonan, Manjunath, Pooja, Baral, Sundar, Neupane, Nirajan, Hilander, Taru, Yang, Yang, Balboa, Diego, Terzioglu, Mügen, Euro, Liliya, Varjosalo, Markku, Tyynismaa, Henna
Publicado 2018

TRIM2, a novel member of the antiviral family, limits New World arenavirus entry

por Sarute, Nicolas, Ibrahim, Nouhou, Medegan Fagla, Bani, Lavanya, Madakasira, Cuevas, Christian, Stavrou, Spyridon, Otkiran-Clare, Guliz, Tyynismaa, Henna, Henao-Mejia, Jorge, Ross, Susan R.
Publicado 2019

Overexpression of TFAM or Twinkle Increases mtDNA Copy Number and Facilitates Cardioprotection Associated with Limited Mitochondrial Oxidative Stress

por Ikeda, Masataka, Ide, Tomomi, Fujino, Takeo, Arai, Shinobu, Saku, Keita, Kakino, Takamori, Tyynismaa, Henna, Yamasaki, Toshihide, Yamada, Ken-ichi, Kang, Dongchon, Suomalainen, Anu, Sunagawa, Kenji
Publicado 2015

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

por Järvilehto, Julius, Harjuhaahto, Sandra, Palu, Edouard, Auranen, Mari, Kvist, Jouni, Zetterberg, Henrik, Koskivuori, Johanna, Lehtonen, Marko, Saukkonen, Anna Maija, Jokela, Manu, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2022

Human Heart Mitochondrial DNA Is Organized in Complex Catenated Networks Containing Abundant Four-way Junctions and Replication Forks

por Pohjoismäki, Jaakko L. O., Goffart, Steffi, Tyynismaa, Henna, Willcox, Smaranda, Ide, Tomomi, Kang, Dongchon, Suomalainen, Anu, Karhunen, Pekka J., Griffith, Jack D., Holt, Ian J., Jacobs, Howard T.
Publicado 2009