Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Simona Darovic"'
Autor:
Helena Motaln, Youn-Bok Lee, Maja Štalekar, Christopher Shaw, Markus Grosch, Ana Bajc Česnik, Sonja Prpar Mihevc, Jure Pohleven, Micha Drukker, Julija Mazej, Mirjana Malnar, Boris Rogelj, Marko Fonović, Miha Modic, Simona Darovic, Boris Turk
Publikováno v:
J. Cell Sci. 132:jcs224303 (2019)
The GGGGCC (G(4)C(2)) repeat expansion mutation in the C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Transcription of the repeat and formation of nuclear RNA foci, which seques
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d9ee9b063796c8ea7706200b168b2e
https://doi.org/10.1242/jcs.224303
https://doi.org/10.1242/jcs.224303
Autor:
Ana, Bajc Česnik, Simona, Darovic, Sonja, Prpar Mihevc, Maja, Štalekar, Mirjana, Malnar, Helena, Motaln, Youn-Bok, Lee, Julija, Mazej, Jure, Pohleven, Markus, Grosch, Miha, Modic, Marko, Fonovič, Boris, Turk, Micha, Drukker, Christopher E, Shaw, Boris, Rogelj
Publikováno v:
Journal of cell science. 132(5)
The GGGGCC (G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5eab73b36e95efe1c460603c868bce0e
https://pubmed.ncbi.nlm.nih.gov/30745340
https://pubmed.ncbi.nlm.nih.gov/30745340
Autor:
Manuel Mayr, Boris Rogelj, K. Rebolj, Christopher Shaw, M. Stalekar, Simona Darovic, Claire Troakes, Xiaoke Yin
Publikováno v:
Neuroscience. 293:157-170
Transactive response DNA-binding protein 43 (TDP-43) is a predominantly nuclear, ubiquitously expressed RNA and DNA-binding protein. It recognizes and binds to UG repeats and is involved in pre-mRNA splicing, mRNA stability and microRNA metabolism. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eccb5e960e6f413c65136a500efe25f
https://doi.org/10.1016/j.neuroscience.2015.02.046
https://doi.org/10.1016/j.neuroscience.2015.02.046
Autor:
Mojca Pavlin, Boris Rogelj, Matej Podbregar, Sonja Prpar Mihevc, Tomaz Mars, Marko Živin, Simona Darovic
Publikováno v:
Journal of molecular neuroscience : MN. 62(3-4)
Degeneration of distal axons and neuromuscular junctions is an early feature in the pathology of amyotrophic lateral sclerosis (ALS), which culminates in motor neuron loss due to axon retraction and muscle atrophy. The complex interactions in the pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73fa7fe02034aaf2e801555f732514c8
https://pubmed.ncbi.nlm.nih.gov/28620838
https://pubmed.ncbi.nlm.nih.gov/28620838
Autor:
Ana Bajc Česnik, Sonja Prpar Mihevc, Simona Darovic, Anja Kovanda, Vera Župunski, Boris Rogelj
Publikováno v:
Brain : a journal of neurology. 140(1)
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are two ends of a phenotypic spectrum of disabling, relentlessly progressive and ultimately fatal diseases. A key characteristic of both conditions is the presence of TDP-43 (encoded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb933d8e69ec51337727f57a12cd9d38
https://pubmed.ncbi.nlm.nih.gov/27497493
https://pubmed.ncbi.nlm.nih.gov/27497493
Autor:
Christopher Shaw, Vera Župunski, Maja Štalekar, Boris Rogelj, Simona Darovic, Sonja Prpar Mihevc, Gregor Gunčar, Youn-Bok Lee
Publikováno v:
Journal of Cell Science.
Aberrant cytoplasmic aggregation of FUS, which is caused by mutations primarily in the C-terminal nuclear localisation signal, is associated with 3% of cases of familial amyotrophic lateral sclerosis (ALS). FUS aggregates are also pathognomonic for 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b04eb2bc4b1b7eb15dd28af7087db8e5
https://doi.org/10.1242/jcs.176602
https://doi.org/10.1242/jcs.176602