Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Virginia, Brilhante"'
Autor:
Catalina Vasilescu, Mert Colpan, Tiina H. Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J. Carroll, Velia M. Fowler, Carol C. Gregorio, Anu Suomalainen
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565
Externí odkaz:
https://doaj.org/article/17f82ec28ec14b21ac18fe950a134c51
Autor:
Joni Nikkanen, Juan Cruz Landoni, Diego Balboa, Maarja Haugas, Juha Partanen, Anders Paetau, Pirjo Isohanni, Virginia Brilhante, Anu Suomalainen
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 13-21 (2017)
Abstract DNA polymerase gamma (POLG), the mtDNA replicase, is a common cause of mitochondrial neurodegeneration. Why POLG defects especially cause central nervous system (CNS) diseases is unknown. We discovered a complex genomic regulatory locus for
Externí odkaz:
https://doaj.org/article/6fb47723ca3249a4bdd9968545195a44
Autor:
Sampsa Hautaniemi, Marikki Laiho, Sanna Ryytty, Anu Suomalainen, Riikka H. Hämäläinen, Steffi Goffart, M. Obaidur Rahman, Liya Wang, Katherine Icay, Virginia Brilhante, Kati J. Ahlqvist, Juan C. Landoni
Non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea207b78f314b3ee7567bda306f68757
http://hdl.handle.net/10138/326256
http://hdl.handle.net/10138/326256
Autor:
Nahid Akhtar Khan, Alberto Pessia, Nina Lundbom, Päivi Piirilä, Anu Suomalainen, Kimmo Haimilahti, Mark S. Schmidt, Charles Brenner, Mari Auranen, Marja-Riitta Taskinen, Vidya Velagapudi, Niina Urho, Ulla Heinonen, Juho Kuula, Kirsi H. Pietiläinen, Antti Hakkarainen, Eija Pirinen, Virginia Brilhante
NAD(+) is a redox-active metabolite, the depletion of which has been proposed to promote aging and degenerative diseases in rodents. However, whether NAD(+) depletion occurs in patients with degenerative disorders and whether NAD(+) repletion improve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e9f57dbf0cdcae91402383cad05d5c
http://hdl.handle.net/10138/330502
http://hdl.handle.net/10138/330502
Autor:
Max Pohjanpelto, Päivi Lahermo, Erika Ignatius, Virginia Brilhante, Simo Ojanen, Tuula Lönnqvist, Christopher J. Carroll, Anu Suomalainen, Eino Palin, Pirjo Isohanni
Publikováno v:
Neurology: Genetics
ObjectiveTo characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland.MethodsThis study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7059710291f56102aca38a38599d00f
http://europepmc.org/articles/PMC7323479
http://europepmc.org/articles/PMC7323479
Autor:
Riikka H, Hämäläinen, Juan C, Landoni, Kati J, Ahlqvist, Steffi, Goffart, Sanna, Ryytty, M Obaidur, Rahman, Virginia, Brilhante, Katherine, Icay, Sampsa, Hautaniemi, Liya, Wang, Marikki, Laiho, Anu, Suomalainen
Publikováno v:
Nature metabolism. 2(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::672b64e95993cd2b268ccaf7a5899cb8
https://pubmed.ncbi.nlm.nih.gov/32778836
https://pubmed.ncbi.nlm.nih.gov/32778836
Autor:
Eija, Pirinen, Mari, Auranen, Nahid A, Khan, Virginia, Brilhante, Niina, Urho, Alberto, Pessia, Antti, Hakkarainen, Juho, Kuula, Ulla, Heinonen, Mark S, Schmidt, Kimmo, Haimilahti, Päivi, Piirilä, Nina, Lundbom, Marja-Riitta, Taskinen, Charles, Brenner, Vidya, Velagapudi, Kirsi H, Pietiläinen, Anu, Suomalainen
Publikováno v:
Cell metabolism. 31(6)
NAD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d37a3aef6331d5151ca618972ba4e78
https://pubmed.ncbi.nlm.nih.gov/32640244
https://pubmed.ncbi.nlm.nih.gov/32640244
Autor:
Virginia Brilhante, Kati J. Ahlqvist, Liya Wang, Juan C. Landoni, Riikka H. Hämäläinen, Sampsa Hautaniemi, M. Obaidur Rahman, Steffi Goffart, Marikki Laiho, Sanna Ryytty, Anu Suomalainen, Katherine Icay
Publikováno v:
Nature metabolism. 1(10)
Mitochondrial DNA (mtDNA) mutagenesis and nuclear DNA repair defects are considered cellular mechanisms of ageing. mtDNA mutator mice with increased mtDNA mutagenesis show signs of premature ageing. However, why patients with mitochondrial diseases,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c217685fa129c00ad1dd013ad32c8fe9
https://pubmed.ncbi.nlm.nih.gov/32778837
https://pubmed.ncbi.nlm.nih.gov/32778837
Autor:
Virginia Brilhante, Liya Wang, Sanna Ryytty, M. Obaidur Rahman, Steffi Goffart, Sampsa Hautaniemi, Kati J. Ahlqvist, Juan C. Landoni, Riikka H. Hämäläinen, Katherine Icay, Marikki Laiho, Anu Suomalainen
Publikováno v:
Nature Metabolism. 2:793-793
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d5eb54ab8d69ba708c1eafc80a73188
https://doi.org/10.1038/s42255-020-0255-0
https://doi.org/10.1038/s42255-020-0255-0
Autor:
Eija Pirinen, Mari Auranen, Nahid A. Khan, Virginia Brilhante, Niina Urho, Alberto Pessia, Antti Hakkarainen, Juho Kuula Ulla Heinonen, Mark S. Schmidt, Kimmo Haimilahti, Päivi Piirilä, Nina Lundbom, Marja-Riitta Taskinen, Charles Brenner, Vidya Velagapudi, Kirsi H. Pietiläinen, Anu Suomalainen
Publikováno v:
Cell Metabolism. 32:144
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d43e3940060f6c1587eb660972a0bed
https://doi.org/10.1016/j.cmet.2020.05.020
https://doi.org/10.1016/j.cmet.2020.05.020