Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients

Autor: Elena Daoutsali, Barry A. Pepers, Stavros Stamatakis, Linda M. van der Graaf, Gisela M. Terwindt, David A. Parfitt, Ronald A. M. Buijsen, Willeke M. C. van Roon-Mom

Publikováno v: Frontiers in Aging Neuroscience, Vol 14 (2023)

IntroductionADutch-type cerebral amyloid angiopathy (D-CAA) is a hereditary brain disorder caused by a point mutation in the amyloid precursor protein (APP) gene. The mutation is located within the amyloid beta (Aβ) domain of APP and leads to Aβ pe

Externí odkaz: https://doaj.org/article/4a429a12a5844e2bbef696b3f8bd5abb

Antisense oligonucleotide-induced amyloid precursor protein splicing modulation as a therapeutic approach for Dutch-type cerebral amyloid angiopathy

Autor: Barry A. Pepers, Linda M. van der Graaf, Ronald A.M. Buijsen, Tsinatkeab Tadesse Hailu, Elena Daoutsali, Daniel Curtis, Willeke M. C. van Roon-Mom, Thomas Petrus Gerardus De Vlaam, Marcel M. Verbeek

Publikováno v: Nucleic Acid Therapeutics, 31(5), 351-363. MARY ANN LIEBERT, INC
Nucleic Acid Therapeutics, 31, 351-363
Nucleic Acid Therapeutics, 31, 5, pp. 351-363

Contains fulltext : 244200.pdf (Publisher’s version ) (Open Access) Dutch-type cerebral amyloid angiopathy (D-CAA) is a monogenic form of cerebral amyloid angiopathy and is inherited in an autosomal dominant manner. The disease is caused by a point

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c4fb9ff282d43ccfb5741edf497975
https://hdl.handle.net/1887/3212997

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

Autor: Barry A. Pepers, Elena Daoutsali, Christian Freund, Bert Eussen, Valeria V. Orlova, Simone van de Pas, Anke 't Jong, Gisela M Terwindt, Annelies de Klein, Linda M. van der Graaf, Ronald A.M. Buijsen, Willeke M. C. van Roon-Mom, Tom Brands, Harald Mikkers

Publikováno v: Stem Cell Research, 34. ELSEVIER SCIENCE BV
Stem Cell Research, 34:Unsp 101359. Elsevier Inc.
Stem Cell Research, 34
Stem Cell Research, Vol 34, Iss, Pp-(2019)

Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic HCHW

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8d56a897bf6a21aac7cadcb92d94b4
http://hdl.handle.net/1887/121489