Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anita I. E. Faber"'
Autor:
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170106 (2017)
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from y
Externí odkaz:
https://doaj.org/article/5fc263d2c7534130bc21e94d7fab48dd
Publikováno v:
Drug Discovery Today: Disease Models. :3-10
Despite great advances in clinical diagnostics, genetics and molecular biology, neurodegenerative diseases like Parkinson's disease (PD), Alzheimer's disease (AD) and Huntington's disease (HD) still pose great challenges, both in terms of understandi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d63e8aa35e2353634ba3c8e4e51b91
https://doi.org/10.1016/j.ddmod.2018.09.004
https://doi.org/10.1016/j.ddmod.2018.09.004
Autor:
Antonio Velayos-Baeza, Conor Poland, Amalia M. Dolga, Rubén Gómez-Sánchez, Anita I. E. Faber, Nicola A. Grzeschik, Anthony P. Monaco, Francesco Pinto, Ody C. M. Sibon, Wondwossen M Yeshaw, Liza L. Lahaye, Sven C.D. van IJzendoorn, Marianne van der Zwaag
Publikováno v:
eLife, 8:43561. ELIFE SCIENCES PUBLICATIONS LTD
eLife, Vol 8 (2019)
eLife
eLife, Vol 8 (2019)
eLife
The VPS13A gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the subcellular level. We demonstrate that VPS13A is a peripheral membrane protein, ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7e32d594a9211f0604d270810eeb77
https://doi.org/10.7554/elife.43561
https://doi.org/10.7554/elife.43561
Autor:
Anita I. E. Faber, Nicola A. Grzeschik, Marianne van der Zwaag, Antonio Velayos-Baeza, Rubén Gómez-Sánchez, Liza L. Lahaye, Conor Poland, Ody C. M. Sibon, Francesco Pinto, Amalia M. Dolga, Wondwossen M Yeshaw, Anthony P. Monaco, Sven C.D. van IJzendoorn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f078ade2d7ec988c1052dfb902adde5
https://doi.org/10.7554/elife.43561.038
https://doi.org/10.7554/elife.43561.038
