Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lis F Hasholt"'
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Victor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 18, Iss 6, p e0287268 (2023)
[This corrects the article DOI: 10.1371/journal.pone.0277767.].
Externí odkaz:
https://doaj.org/article/8883cb76a9684b67b23e0587339173dc
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0277767 (2022)
The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001
Externí odkaz:
https://doaj.org/article/46f76d69a186404e998ffcca330b395a
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)
Abstract Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance
Externí odkaz:
https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f
Autor:
Susanne K. Hansen, Tina C. Stummann, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Justus C.A. Daechsel, Karina Fog, Poul Hyttel
Publikováno v:
Stem Cell Research, Vol 17, Iss 2, Pp 306-317 (2016)
The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) is caused by a CAG-repeat expansion in the ATXN3 gene. In this study, induced pluripotent stem cell (iPSC) lines were established from two SCA3 patients. Dermal fibroblasts were repro
Externí odkaz:
https://doaj.org/article/689832b5ce1347ec94da084f4ef67ec1
Autor:
Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel
Publikováno v:
Stem Cell Research, Vol 16, Iss 3, Pp 589-592 (2016)
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by e
Externí odkaz:
https://doaj.org/article/c00a25cb37a8441caa255b51978e7333
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F. Hasholt, Flemming Wibrand, Soren S. Sorensen, Allan M. Lund, Lars Kober, Henning Bundgaard, Puriya D. W. Yazdanfard, Peter Oturai, Vibeke A. Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
Effraimidis, G, Rasmussen, Å K, Dunoe, M, Hasholt, L F, Wibrand, F, Sorensen, S S, Lund, A M, Kober, L, Bundgaard, H, Yazdanfard, P D W, Oturai, P, Larsen, V A, de Abreu, V H F, Enevoldsen, L H, Kristensen, T, Svenstrup, K, Bille, M B, Arif, F, Mogensen, M, Klokker, M, Backer, V, Kistorp, C & Feldt-Rasmussen, U 2022, ' Systematic cascade screening in the Danish Fabry Disease Centre : 20 years of a national single-centre experience ', PLoS ONE, vol. 17, no. 11, e0277767 . https://doi.org/10.1371/journal.pone.0277767
The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years’ (20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9abf80b02ebe0321b2bbfd7d4f319e3
https://curis.ku.dk/ws/files/340540170/journal.pone.0277767.pdf
https://curis.ku.dk/ws/files/340540170/journal.pone.0277767.pdf
Autor:
Mikkel A. Rasmussen, Lena E. Hjermind, Lis F. Hasholt, Gunhild Waldemar, Jørgen E. Nielsen, Christian Clausen, Poul Hyttel, Bjørn Holst
Publikováno v:
Rasmussen, M A, Hjermind, L E, Hasholt, L F, Waldemar, G, Nielsen, J E, Clausen, C, Hyttel, P & Holst, B 2016, ' Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT) ', Stem Cell Research, vol. 16, no. 1, pp. 75-78 . https://doi.org/10.1016/j.scr.2015.12.006
Skin fibroblasts were obtained from a 59-year-old woman diagnosed with frontotemporal dementia. The disease is caused by a R406W mutation in microtubule-associated protein tau (MAPT). Induced pluripotent stem cells (iPSCs) were established by electro