Výsledky vyhledávání

Do carriers of POLG mutation W748S have disease manifestations?

Autor: Anu Suomalainen, Juha O. Rinne, Anders Paetau, Petri Luoma, Jyri J. Virta, Maria Rantamäki, Bjarne Udd

Publikováno v: Clinical Genetics. 72:532-537

Mitochondrial recessive ataxia syndrome (MIRAS) is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. MIRAS patients are homozygous or compound heterozygous for POLG mutations W748S and A467T. Because many

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55217be782c013b5a10a0f1cb69f7430
https://doi.org/10.1111/j.1399-0004.2007.00908.x

Zobrazit plný text záznamu

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Autor: Peter Hackman, Helena Kääriäinen, Teppo Varilo, Laurence A. Bindoff, Ann Löfgren, Petri Luoma, Anu Suomalainen, Seppo Kaakkola, Gert Van Goethem, Kari Majamaa, Silja Heiskanen, Bjarne Udd, Anders Paetau, Ilse Lappalainen, Maria Rantamäki, Vesa Juvonen, Anna H. Hakonen

Publikováno v: The American journal of human genetics

Mutations in the catalytic subunit of the mitochondrial DNA polymerase g ( POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5f93a21f1f8f10bdd02f1cf23176f1
https://doi.org/10.1086/444548

Zobrazit plný text záznamu

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

Autor: Rita Horváth, Anu Suomalainen, Ningguang Luo, Laurie S. Kaguni, Julia Wanschitz, Stefan Kiechl, Carol L. Farr, Petri Luoma, Wolfgang Löscher

Publikováno v: Human Molecular Genetics. 14:1907-1920

Defects of mitochondrial polymerase gamma (POLG) underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome. The most severe manifestations have been associated with mutations of the 'spacer' region of POLG,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d4fc9153760fb48bcf853f624d9556f
https://doi.org/10.1093/hmg/ddi196

Zobrazit plný text záznamu

Abstract 2646: Haptoglobin 2 Allele Associates with Symptomatic Carotid Stenosis and Major Cardiovascular Events

Autor: Petra Ijas, Petri Luoma, Jani Saksi, Jarno Tuimala, Krista Nuotio, Lauri Soinne, Matti Jauhiainen, Markku Kaste, Petri T Kovanen, Perttu J Lindsberg

Publikováno v: Stroke. 43

Objectives: Haptoglobin (Hp) is a plasma protein which binds free hemoglobin (Hb) protecting tissues from iron-induced oxidative damage and promoting Hb clearance via macrophage CD163 receptor. There are two common alleles for Hp (Hp 1 and Hp 2), whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1ac3be072497aa9b5c68903989231a6
https://doi.org/10.1161/str.43.suppl_1.a2646

Zobrazit plný text záznamu

POLG1 polyglutamine tract variants associated with Parkinson’s disease

Autor: Pentti J. Tienari, Andrew B. Singleton, Petri Luoma, Sonja W. Scholz, Anu Suomalainen, Coro Paisán-Ruiz, Terhi Peuralinna, J. Eerola

A possible role of allelic variation of the mitochondrial DNA polymerase gamma (POLG I) gene in Parkinson's disease (PD) has been suggested. First, POLG I missense mutations have been found in patients with familial parkinsonism and mitochondrial myo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a373ecfe257265c42a61fba9f9fcf76
https://europepmc.org/articles/PMC2905783/

Zobrazit plný text záznamu

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease

Autor: J. Eerola, O. Hellström, Kari T. Kivistö, Pentti J. Tienari, Anna H. Hakonen, Petri Luoma, Sofia Ahola, Anu Suomalainen

Publikováno v: Neurology. 69(11)

Objective: Dysfunction of mitochondrial DNA polymerase gamma (POLG) has been recently recognized as an important cause of inherited neurodegenerative diseases. We have reported dominant and recessive inheritance of parkinsonism, mitochondrial myopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196e2b002c194f9e50fb53d161558dbf
https://pubmed.ncbi.nlm.nih.gov/17846414

Zobrazit plný text záznamu

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Autor: A Al Memar, Anu Suomalainen, Petri Luoma, Maria Rantamäki, Seppo Kaakkola, G. Van Goethem, Peter Hackman, C. Van Broeckhoven, Bjarne Udd, J.J. Martin, Ann Löfgren, Ralf Krahe, P. De Jonghe

Publikováno v: Neurology

Objective: To identify POLG mutations in patients with sensory ataxia and CNS features. Methods: The authors characterized clinical, laboratory, and molecular genetic features in eight patients from five European families. The authors conducted seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0466d777cdf7eed2ac2d0d108ed72d44
https://pubmed.ncbi.nlm.nih.gov/15477547

Zobrazit plný text záznamu

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study

Autor: Ilkka Rautakorpi, Leena Peltonen, Nina N. Nupponen, Anu Suomalainen, Juha O. Rinne, Hannu Somer, Atle Melberg, Petri Luoma, Jyrki Kaukonen, Richard M Chalmers, Kari Majamaa, Anders Oldfors

Publikováno v: Lancet (London, England). 364(9437)

Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d83123992507355ec584dc012928f78
https://pubmed.ncbi.nlm.nih.gov/15351195

Zobrazit plný text záznamu

Two families with autosomal dominant progressive external ophthalmoplegia

Autor: Rita Horvath, Petri Luoma, Anu Suomalainen, Johann Willeit, Stefan Kiechl, Michaela Jaksch, Claudia Thaler, R Stucka, U. Kiechl-Kohlendorfer, B Wallacher-Scholz, Julia Wanschitz

Objectives: We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). Patients and methods: The examination of index patients included a detailed clinical characterisati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137bde564dc9180222b420f176c0b442
https://europepmc.org/articles/PMC1739155/

Zobrazit plný text záznamu

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Autor: Petri Luoma, Anu Suomalainen, Sjoerd Wanrooij, Johannes N. Spelbrink, Gert Van Goethem, Christine Van Broeckhoven

Publikováno v: Nucleic acids research

Autosomal dominant and/or recessive progressive external ophthalmoplegia (ad/arPEO) is associated with mtDNA mutagenesis. It can be caused by mutations in three nuclear genes, encoding the adenine nucleotide translocator 1, the mitochondrial helicase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79de7081a65181f06ec0b85f4cb82e7
https://europepmc.org/articles/PMC434440/

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání