Zobrazeno 1 - 10
of 53
pro vyhledávání: '"iPSC disease modeling"'
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Muscular dystrophies are chronic and debilitating disorders caused by progressive muscle wasting. Duchenne muscular dystrophy (DMD) is the most common type. DMD is a well-characterized genetic disorder caused by the absence of dystrophin. Although so
Externí odkaz:
https://doaj.org/article/8cb3d3afd0e24374a4ab263b4d398c25
Autor:
Domiziana Costamagna, Valérie Casters, Marc Beltrà, Maurilio Sampaolesi, Anja Van Campenhout, Els Ortibus, Kaat Desloovere, Robin Duelen
Publikováno v:
Cells, Vol 11, Iss 21, p 3351 (2022)
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic neurodegenerative disorders, characterized by progressive lower limb spasticity and weakness resulting from retrograde axonal degeneration of motor neurons (MNs). Here, we genera
Externí odkaz:
https://doaj.org/article/0240023bdbda4090a978318f83fee318
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Evaluation of potential vascular injury is an essential part of the safety study during pharmaceutical development. Vascular liability issues are important causes of drug termination during preclinical investigations. Currently, preclinical assessmen
Externí odkaz:
https://doaj.org/article/c6055297c0514556925ee953983563b4
Autor:
Lixia Wang, Fei Yi, Lina Fu, Jiping Yang, Si Wang, Zhaoxia Wang, Keiichiro Suzuki, Liang Sun, Xiuling Xu, Yang Yu, Jie Qiao, Juan Carlos Izpisua Belmonte, Ze Yang, Yun Yuan, Jing Qu, Guang-Hui Liu
Publikováno v:
Protein & Cell, Vol 8, Iss 5, Pp 365-378 (2017)
Abstract Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease with cellular and molecular mechanisms yet to be fully described. Mutations in a number of genes including SOD1 and FUS are associated with familial ALS. Here we repo
Externí odkaz:
https://doaj.org/article/03c21c7236ee47a1b946381efb2f0805
Akademický článek
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Autor:
James M. McCarthy, Selina Wray, Siddharth Sethi, Gregory A. O'Sullivan, Helene Plun-Favreau, Anna Poon, Lee A. Dawson, Harpreet K Saini
Publikováno v:
Stem Cell Reports
Summary Sequestosome-1 (SQSTM1/p62) is involved in cellular processes such as autophagy and metabolic reprogramming. Mutations resulting in the loss of function of SQSTM1 lead to neurodegenerative diseases including frontotemporal dementia. The patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e92faca30130bd4d8493f2b5ce05ba
https://doi.org/10.1016/j.stemcr.2021.03.030
https://doi.org/10.1016/j.stemcr.2021.03.030
Autor:
Julia TCW, Lu Qian, Nina H. Pipalia, Michael J. Chao, Shuang A. Liang, Yang Shi, Bharat R. Jain, Sarah E. Bertelsen, Manav Kapoor, Edoardo Marcora, Elizabeth Sikora, Elizabeth J. Andrews, Alessandra C. Martini, Celeste M. Karch, Elizabeth Head, David M. Holtzman, Bin Zhang, Minghui Wang, Frederick R. Maxfield, Wayne W. Poon, Alison M. Goate
Publikováno v:
Cell, vol 185, iss 13
Cell
Cell
The impact of Apolipoprotein E ε4 (APOE4), the strongest genetic risk factor for Alzheimer’s disease (AD), on human brain cellular function remains unclear. Here we investigated the effects of APOE4 on brain cell types derived from population and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b0949c382efaebe1af48a71c238674
https://escholarship.org/uc/item/3hm0v2gr
https://escholarship.org/uc/item/3hm0v2gr
Akademický článek
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Autor:
Maranke I Koster, Peter J Koch
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
The last decade has seen a dramatic increase in innovative ideas for the treatment of genetic disorders for which no curative therapies exist. Gene and protein replacement therapies stand out as novel approaches to treat a select group of these disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbde6651311f31f6a70ac1be27aba17b
https://www.frontiersin.org/articles/10.3389/fgene.2021.714764/full
https://www.frontiersin.org/articles/10.3389/fgene.2021.714764/full
Akademický článek
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