Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Alicia Sanz Sanz"'
Autor:
Sabine Schipper-Krom, Alicia Sanz Sanz, Emma J. van Bodegraven, Dave Speijer, Bogdan I. Florea, Huib Ovaa, Eric A. Reits
Publikováno v:
Frontiers in Molecular Biosciences, Vol 6 (2019)
The proteasome is a multi-catalytic molecular machine that plays a key role in the degradation of many cytoplasmic and nuclear proteins. The proteasome is essential and proteasome malfunction is associated with various disease pathologies. Proteasome
Externí odkaz:
https://doaj.org/article/6e6f53de7d6c4575a62cbd981c56edce
Autor:
Karlijne W Geijtenbeek, Jolien Janzen, Aleksandra E Bury, Alicia Sanz-Sanz, Ron A Hoebe, Marie K Bondulich, Gillian P Bates, Eric A J Reits, Sabine Schipper-Krom
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278130 (2022)
Huntington's disease is an autosomal dominant heritable disorder caused by an expanded CAG trinucleotide repeat at the N-terminus of the Huntingtin (HTT) gene. Lowering the levels of soluble mutant HTT protein prior to aggregation through increased d
Externí odkaz:
https://doaj.org/article/ab2a3b5b3aba44b890ddb44b5ee0aee0
Autor:
Jan Wijnholds, Mathias W. Seeliger, Jacobus J. Dudok, Ditte M. S. Lundvig, Alicia Sanz Sanz, Jan Klooster, Marina Garcia Garrido, Vithiyanjali Sothilingam
Publikováno v:
Glia. 61:1629-1644
MPP3 and CRB1 both interact directly with PALS1/MPP5 and through this scaffold protein may form a large protein complex. To investigate the role of MPP3 in the retina we have analyzed conditional mutant Mpp3 knockout mice. Ultrastructural localizatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d750afed99ed90dd534582ed7829a6f6
https://doi.org/10.1002/glia.22545
https://doi.org/10.1002/glia.22545
Autor:
Anne Wiemhoefer, Alicia Sanz Sanz, Eric Reits, Alexander Kloss, Sabine Schipper-Krom, Katrin Juenemann
Publikováno v:
Journal of biological chemistry, 288(38), 27068-27084. American Society for Biochemistry and Molecular Biology Inc.
Huntington disease is a neurodegenerative disorder caused by an expanded polyglutamine (polyQ) repeat within the protein huntingtin (Htt). N-terminal fragments of the mutant Htt (mHtt) proteins containing the polyQ repeat are aggregation-prone and fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532840a25937a649ad331030e3a2024e
https://doi.org/10.1074/jbc.m113.486076
https://doi.org/10.1074/jbc.m113.486076
Publikováno v:
The Journal of Neuroscience, 33, 19, pp. 8518-27
Journal of Neuroscience, 33, 8518-8527. Society for Neuroscience
The Journal of Neuroscience, 33, 8518-27
Dudok, J J, Sanz, A S, Lundvig, D M S & Wijnholds, J 2013, ' MPP3 is required for maintenance of the apical junctional complex, neuronal migration, and stratification in the developing cortex ', The Journal of Neuroscience, vol. 33, no. 19, pp. 8518-8527 . https://doi.org/10.1523/JNEUROSCI.5627-12.2013
The Journal of Neuroscience, 33(19), 8518-8527. Society for Neuroscience
Journal of Neuroscience; Vol 33
Journal of Neuroscience, 33, 8518-8527. Society for Neuroscience
The Journal of Neuroscience, 33, 8518-27
Dudok, J J, Sanz, A S, Lundvig, D M S & Wijnholds, J 2013, ' MPP3 is required for maintenance of the apical junctional complex, neuronal migration, and stratification in the developing cortex ', The Journal of Neuroscience, vol. 33, no. 19, pp. 8518-8527 . https://doi.org/10.1523/JNEUROSCI.5627-12.2013
The Journal of Neuroscience, 33(19), 8518-8527. Society for Neuroscience
Journal of Neuroscience; Vol 33
Contains fulltext : 125632.pdf (Publisher’s version ) (Open Access) During mammalian cortical development, division of progenitor cells occurs at the apical ventricular zone. Apical complex proteins and adherens junctions regulate the different mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3470f48679df997a65268eea480c36
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/125632
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/125632
Autor:
Jacobus J, Dudok, Alicia Sanz, Sanz, Ditte M S, Lundvig, Vithiyanjali, Sothilingam, Marina, Garcia Garrido, Jan, Klooster, Mathias W, Seeliger, Jan, Wijnholds
Publikováno v:
Glia. 61(10)
MPP3 and CRB1 both interact directly with PALS1/MPP5 and through this scaffold protein may form a large protein complex. To investigate the role of MPP3 in the retina we have analyzed conditional mutant Mpp3 knockout mice. Ultrastructural localizatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85d019e95f5ddd067365c24989dd2927
https://pubmed.ncbi.nlm.nih.gov/23893895
https://pubmed.ncbi.nlm.nih.gov/23893895
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene
Autor:
Jan Wijnholds, Naoyuki Tanimoto, Mariyam Murtaza, André Le Bivic, Lucie P. Pellissier, Susanne C. Beck, Iswariyaraja Sridevi Gurubaran, Christiaan N. Levelt, Fabrice Richard, Bokyung Park, Gesine Huber, Alicia Sanz Sanz, Mathias W. Seeliger, P. Rashbass, Marina Garcia Garrido, Celso Henrique Alves
Publikováno v:
Human Molecular Genetics, 22, 35-50. Oxford University Press
Human Molecular Genetics; Vol 22
Human Molecular Genetics
Human Molecular Genetics, 2013, 22 (1), pp.35-50. ⟨10.1093/hmg/dds398⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (1), pp.35-50. ⟨10.1093/hmg/dds398⟩
Human Molecular Genetics; Vol 22
Human Molecular Genetics
Human Molecular Genetics, 2013, 22 (1), pp.35-50. ⟨10.1093/hmg/dds398⟩
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (1), pp.35-50. ⟨10.1093/hmg/dds398⟩
International audience; In humans, the Crumbs homolog-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. However, there is no clear genotype-phenotype correlation for CRB1 mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6a00cd12f66bfe693da064f70bc347
https://pubmed.ncbi.nlm.nih.gov/23001562
https://pubmed.ncbi.nlm.nih.gov/23001562
Autor:
Alicia Sanz Sanz, Judith Gillis, Jan W. Drijfhout, Eric Reits, Willemien E. Benckhuijsen, Henk A. van Veen
Publikováno v:
Traffic, 12(12), 1897-1910
Traffic (Copenhagen, Denmark), 12(12), 1897-1910. Blackwell Munksgaard
Traffic (Copenhagen, Denmark), 12(12), 1897-1910. Blackwell Munksgaard
Most cytoplasmic and nuclear proteins are degraded via the ubiquitin-proteasome system into peptides, which are subsequently hydrolyzed by downstream aminopeptidases. Inefficient degradation can lead to accumulation of protein fragments, and subseque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9dfee227c312379c044fed8bab77f69
https://doi.org/10.1111/j.1600-0854.2011.01270.x
https://doi.org/10.1111/j.1600-0854.2011.01270.x
Autor:
Alicia Sanz Sanz, Jan Klooster, Inge Versteeg, Wendy M. Aartsen, Mathias W. Seeliger, Jan Wijnholds, Rogier M. Vos, Serge A. van de Pavert, Susanne C. Beck
Publikováno v:
Glia. 55(14)
Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal blinding diseases, such as Leber congenital amaurosis and retinitis pigmentosa. In the previous studies we have shown that Crb1 resides in retinal Muller glia cells and that loss of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deca6d72522caaecb9208e3ebac7ca60
https://pubmed.ncbi.nlm.nih.gov/17705196
https://pubmed.ncbi.nlm.nih.gov/17705196