Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ana Cascalho"'
Autor:
Annemarie van Nieuwenhuijze, Oliver Burton, Pierre Lemaitre, Alice E. Denton, Ana Cascalho, Rose E. Goodchild, Bert Malengier-Devlies, Bénédicte Cauwe, Michelle A. Linterman, Stephanie Humblet-Baron, Adrian Liston
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
The nucleopore is an essential structure of the eukaryotic cell, regulating passage between the nucleus and cytoplasm. While individual functions of core nucleopore proteins have been identified, the role of other components, such as Nup210, are poor
Externí odkaz:
https://doaj.org/article/ea6daabe68c0476eac4279b06148b9be
Publikováno v:
Annual Review of Biochemistry. 92
The polyamines putrescine, spermidine, and spermine are abundant polycations of vital importance in mammalian cells. Their cellular levels are tightly regulated by degradation and synthesis, as well as by uptake and export. Here, we discuss the delic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3a36e6e5e833e496879f21ca7b67ed6
https://doi.org/10.1146/annurev-biochem-071322-021330
https://doi.org/10.1146/annurev-biochem-071322-021330
Autor:
Sandra F. Gallego, Antonio Pisani, Christine Klein, Patrik Verstreken, Philip Seibler, Joyce Foroozandeh, Rose E. Goodchild, Ana Cascalho, Maria Meringolo, Lise Hennebel, Jef Swerts, Beatriz Dominguez Gonzalez, Stef Rous
Publikováno v:
Brain
TOR1A/TorsinA mutations cause two incurable diseases: a recessive congenital syndrome that can be lethal, and a dominantly-inherited childhood-onset dystonia (DYT-TOR1A). TorsinA has been linked to phosphatidic acid lipid metabolism in Drosophila mel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d813482960f81ccf094ae4766b4705cb
https://doi.org/10.1093/brain/awaa139
https://doi.org/10.1093/brain/awaa139
Autor:
Joyce Foroozandeh, Rose E. Goodchild, Sandra F. Gallego, Stef Rous, Ana Cascalho, Natalia Martínez Vizcaíno
SummaryThere has been enormous progress defining the genetic landscape of disease. However, genotypes rarely fully predict neurological phenotypes, and we rarely understand why.TOR1A+/Δgag that causes dystonia with ~30% penetrance is a classic case.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5789519b064fa92b6bc4c5b8e8f3d293
https://doi.org/10.1101/2020.03.18.997247
https://doi.org/10.1101/2020.03.18.997247
Publikováno v:
Movement Disorders. 32:371-381
Heterozygosity for a 3-base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning structural bioch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1cafdb5229265e0dc58e0a6f7aa14cd
https://doi.org/10.1002/mds.26880
https://doi.org/10.1002/mds.26880
Autor:
Sandra F. Gallego, Beatriz Dominguez Gonzalez, Ana Cascalho, Antonio Pisani, Hennebel L, Christine Klein, Patrik Verstreken, Maria Meringolo, Philip Seibler, Joyce Foroozandeh, Stef Rous, Rose E. Goodchild
TOR1A/TorsinA mutations cause poorly explained neurological diseases. A dominantly inherited mutation causes isolated dystonia, while biallelic mutations cause a recessive infant-onset syndrome with cases of lethality. Here we report an unexpected co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d61d45e2a0317fdee97696135e42ec
Endoplasmic reticulum (ER)-localized enzymes synthesize the vast majority of cellular lipids. The ER therefore has a major influence on cellular lipid biomass and balances the production of different lipid categories, classes, and species. Signals fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77226d1521c71d0d6b74b2cf4a4e10b4
https://lirias.kuleuven.be/handle/123456789/626332
https://lirias.kuleuven.be/handle/123456789/626332
Autor:
Ana, Cascalho, Rose E, Goodchild
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 33(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d8d2a962edea0ae34515e01624adeed
https://pubmed.ncbi.nlm.nih.gov/29053766
https://pubmed.ncbi.nlm.nih.gov/29053766
Autor:
Deborah Dhuyvetter, Bianca Van Broeck, Herman Borghys, Greet Meulders, Ana Cascalho, Daan Van Glabbeek, Marc Mercken
Publikováno v:
Alzheimer's & Dementia. 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b0c1e8df2a2e68c92cb13229c17c94e
https://doi.org/10.1016/j.jalz.2016.06.1249
https://doi.org/10.1016/j.jalz.2016.06.1249
Autor:
Beatriz Dominguez Gonzalez, Ana Cascalho, Micheline Grillet, Phyllis I. Hanson, Maria Pöttler, Teresa V. Naismith, Rose E. Goodchild, Sergio Hernandez Diaz, Patrik Verstreken, Karolien Billion, Natalia V. Gounko, Adria Sicart, Jef Swerts
Publikováno v:
Developmental Cell
Torsins are developmentally essential AAA+ proteins, and mutation of human torsinA causes the neurological disease DYT1 dystonia. They localize in the ER membranes, but their cellular function remains unclear. We now show that dTorsin is required in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1538a94cde2651c92a4ddacea36c3c64