Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Rose E. Goodchild"'
Autor:
M. Maltese, G. Martella, P. Imbriani, Jeroen Schuermans, Karolien Billion, G. Sciamanna, Febin Farook, G. Ponterio, A. Tassone, M. Santoro, P. Bonsi, A. Pisani, Rose E. Goodchild
Publikováno v:
Neurobiology of Disease, Vol 108, Iss , Pp 128-139 (2017)
Striatal dysfunction is implicated in many movement disorders. However, the precise nature of defects often remains uncharacterized, which hinders therapy development. Here we examined striatal function in a mouse model of the incurable movement diso
Externí odkaz:
https://doaj.org/article/fafd27377b0849c2a3e8933784d3d8d7
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
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
Autor:
Joyce Foroozandeh, Julie Jacquemyn, Sandra F. Gallego, Rose E. Goodchild, Patrik Verstreken, Natalia V. Gounko, Katlijn Vints, Jef Swerts
Publikováno v:
The EMBO Journal
The interphase nuclear envelope (NE) is extensively remodeled during nuclear pore complex (NPC) insertion. How this remodeling occurs and why it requires Torsin ATPases, which also regulate lipid metabolism, remains poorly understood. Here, we show t
Autor:
Jef Swerts, Patrik Verstreken, Natalia V. Gounko, Joyce Foroozandeh, Julie Jacquemyn, Rose E. Goodchild, Sandra F. Gallego, Katlijn Vints
Torsin ATPases of the endoplasmic reticulum (ER) and nuclear envelope (NE) lumen inhibit Lipin-mediated phosphatidate (PA) to diacylglycerol (DAG) conversion by an unknown mechanism. This excess PA metabolism is implicated inTOR1A/TorsinA diseases, b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf2a95ecd4da325ca47a9ff8afb8a05a
https://doi.org/10.1101/2020.07.05.188599
https://doi.org/10.1101/2020.07.05.188599
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
Autor:
Paola Imbriani, Giuseppina Martella, Kathrin Grundmann-Hauser, Olaf Riess, Thomas Ott, Celina Tomczak, Zinah Wassouf, Huu Phuc Nguyen, Giuseppe Sciamanna, Antonio Pisani, Julia M. Schulze-Hentrich, Paola Bonsi, Libo Yu-Taeger, Rose E. Goodchild, Giulia Ponterio, Annalisa Tassone
Publikováno v:
Neurobiology of Disease, Vol 134, Iss, Pp-(2020)
Dystonia is a neurological movement disorder characterized by sustained or intermittent involuntary muscle contractions. Loss-of-function mutations in the GNAL gene have been identified to be the cause of “isolated” dystonia DYT25. The GNAL gene
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
Autor:
Paola, Bonsi, Giulia, Ponterio, Valentina, Vanni, Annalisa, Tassone, Giuseppe, Sciamanna, Sara, Migliarini, Giuseppina, Martella, Maria, Meringolo, Benjamin, Dehay, Evelyne, Doudnikoff, Venetia, Zachariou, Rose E, Goodchild, Nicola B, Mercuri, Marcello, D'Amelio, Massimo, Pasqualetti, Erwan, Bezard, Antonio, Pisani
Publikováno v:
EMBO Molecular Medicine
Dopamine D2 receptor signaling is central for striatal function and movement, while abnormal activity is associated with neurological disorders including the severe early‐onset DYT1 dystonia. Nevertheless, the mechanisms that regulate D2 receptor s