Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Cathrine K. Fog"'
Autor:
James Gray, María E. Fernández-Suárez, Maysa Falah, David Smith, Claire Smith, Ecem Kaya, Ashley M. Palmer, Cathrine K. Fog, Thomas Kirkegaard, Frances M. Platt
Publikováno v:
EBioMedicine, Vol 86, Iss , Pp 104374- (2022)
Summary: Background: Niemann-Pick disease type C (NPC) is a rare prematurely fatal lysosomal lipid storage disease with limited therapeutic options. The prominent neuropathological hallmarks include hypomyelination and cerebellar atrophy. We previous
Externí odkaz:
https://doaj.org/article/347ec716afe84419a9c173aa2c4de1d4
Autor:
Cathrine K. Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj H.T. Petersen, Bruno Bembi, Johannes F.M.G. Aerts, Andrea Dardis, Thomas Kirkegaard
Publikováno v:
EBioMedicine, Vol 38, Iss , Pp 142-153 (2018)
Background: Gaucher Disease is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly affect GCase function by perturbing its protein homeostasis rather than its catalytic activity
Externí odkaz:
https://doaj.org/article/73a0c1f67b9c4c39af175f9198dbb0e8
Autor:
Cathrine K. Fog, Thomas Kirkegaard
Publikováno v:
Expert Opinion on Drug Discovery. 14:499-509
Niemann-Pick type C (NPC) is a neurovisceral, progressively detrimental lysosomal storage disease with very limited therapeutic options and no approved treatment available in the US. Despite its rarity, NPC has seen increased drug developmental effor
Autor:
Nikolaj H.T. Petersen, Pontus Klein, Cristina Valacca, Anne Bie, Raffaella Magnoni, Marianne T. Pedersen, Andrea C. Lampp, Cathrine K. Fog, Thomas T. Kirkegaard
Publikováno v:
Molecular Genetics and Metabolism. 135:S96
Autor:
Lene Andersen, Nikolaj H. Petersen, Linda Ingemann, Cathrine K. Fog, Christine í Dali, Thomas Kirkegaard
Publikováno v:
Molecular Genetics and Metabolism. 135:S18
Autor:
James, Gray, María E, Fernández-Suárez, Maysa, Falah, David, Smith, Claire, Smith, Ecem, Kaya, Ashley M, Palmer, Cathrine K, Fog, Thomas, Kirkegaard, Frances M, Platt
Publikováno v:
EBioMedicine. 86
Niemann-Pick disease type C (NPC) is a rare prematurely fatal lysosomal lipid storage disease with limited therapeutic options. The prominent neuropathological hallmarks include hypomyelination and cerebellar atrophy. We previously demonstrated the e
Publikováno v:
Molecular Genetics and Metabolism. 132:S85-S86
Autor:
Lukasz Michael Solanko, Paola Zago, Thomas Kirkegaard, Arnela Mehmedbasic, Andrea Dardis, Paolo Peruzzo, Claus Bornæs, Bruno Bembi, Johannes F.M.G. Aerts, Cathrine K. Fog, Erika Malini, Raffaella Magnoni, Nikolaj H.T. Petersen
Publikováno v:
EBioMedicine
EBioMedicine, 38, 142-153
EBioMedicine, 38, 142-153
Background Gaucher Disease is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly affect GCase function by perturbing its protein homeostasis rather than its catalytic activity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ea87fc92fe3eb2578318a7059e73fc
https://hdl.handle.net/1887/68305
https://hdl.handle.net/1887/68305
Autor:
Carsten Friis, Kirsten Grønbæk, Linda Jacobsen, Christophe Côme, Klaus T. Jensen, Louise Rosgaard, Anders H. Lund, Cathrine K. Fog, Alison Louw, Fazila Asmar, Arie Koen Braat, Jens Vilstrup Johansen, Maarten van Lohuizen, Kristian Anthonsen, Elisabeth Ralfkiaer, Nina Friesgaard Øbro, Hanne Vibeke Marquart, Tony Bou Kheir
Publikováno v:
Blood. 125:1272-1281
The PR-domain (PRDM) family of genes encodes transcriptional regulators, several of which are deregulated in cancer. By using a functional screening approach, we sought to identify novel tumor suppressors among the PRDMs. Here we demonstrate oncogeni
Publikováno v:
APMIS. 115:1060-1089
Chromatin-modifying proteins mold the genome into areas that are accessible for transcriptional activity and areas that are transcriptionally silent. This epigenetic gene regulation allows for different transcriptional programs to be conducted in dif