Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

Autor: Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot, Esther B. E. Becker

Publikováno v: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)

Abstract Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. SCA14 is caused by mutations in the PRKCG gene, encodi

Externí odkaz: https://doaj.org/article/d36835a4edd448ddb8d5f839cc6adf53

Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders

Autor: Kyoko Watanabe, Lisa Hinz, Danielle Posthuma, Stephanie D. Hoekstra, Vivi M. Heine

Publikováno v: Stem Cell Reviews
Hinz, L, Hoekstra, S D, Watanabe, K, Posthuma, D & Heine, V M 2019, ' Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders ', Stem Cell Reviews and Reports, vol. 15, no. 2, pp. 276-285 . https://doi.org/10.1007/s12015-018-9851-8
Hinz, L, Hoekstra, S D, Watanabe, K, Posthuma, D & Heine, V M 2019, ' Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders ', Stem cell reviews and reports, vol. 15, no. 2, pp. 276-285 . https://doi.org/10.1007/s12015-018-9851-8
Stem Cell Reviews and Reports, 15(2), 276-285. Humana Press
Stem cell reviews and reports, 15(2), 276-285. Humana Press

Generation of proper controls is crucial in induced pluripotent stem cell (iPSC) studies. X-chromosomal disorders offer the potential to develop isogenic controls due to random X-chromosomal inactivation (XCI). However, the generation of such lines i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af961348e6fb5cffbef534d59d0948fe
https://doi.org/10.1007/s12015-018-9851-8