Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alžbeta Trančiková"'
Autor:
Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann, Peter Spalek, Iveta Meciarova, Egon Kurca, Norbert Zilka, Kamil Zelenak, Wolfgang Bogner, Martin Kolisek
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function
Externí odkaz:
https://doaj.org/article/11edfc56a503426589f2ee1404bced33
Autor:
Alzbeta Trancikova, Adamantios Mamais, Philip J Webber, Klodjan Stafa, Elpida Tsika, Liliane Glauser, Andrew B West, Rina Bandopadhyay, Darren J Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47784 (2012)
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are a common cause of autosomal dominant familial Parkinson's disease (PD). LRRK2 encodes a multi-domain protein containing GTPase and kinase enzymatic domains. Disease-associated mutations i
Externí odkaz:
https://doaj.org/article/86049abe11db46db90e2a405b463745d
Autor:
Klodjan Stafa, Alzbeta Trancikova, Philip J Webber, Liliane Glauser, Andrew B West, Darren J Moore
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002526 (2012)
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of autosomal dominant familial Parkinson's disease (PD) and also contribute to idiopathic PD. LRRK2 encodes a large multi-domain protein with GTPase and kinase activ
Externí odkaz:
https://doaj.org/article/15797c1bcf4e4a1d82f5fa020e37e892
Autor:
Agata Podhajska, Alessandra Musso, Alzbeta Trancikova, Klodjan Stafa, Roger Moser, Sarah Sonnay, Liliane Glauser, Darren J Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39942 (2012)
Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability re
Externí odkaz:
https://doaj.org/article/d7741207fc88436a8e306365b46d67d0
Akademický článek
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Autor:
Heike Stroissnigg, René Eichinger, Alžbeta Trančiková, Rainer Noiges, Friedrich Propst, Ilse Kalny
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763(10):1011-1016
The microtubule-associated proteins MAP1A and MAP1B are related but distinct multi-subunit protein complexes that consist of heavy and light chains. The predominant forms of these complexes are homotypic, i.e. they consist of a MAP1A heavy chain asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caace9e28d39cda8aa4c24ffe142b8f