Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sarah C. Borrie"'
Autor:
Sarah C. Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, Akihiko Yoshimura, Rudi D’Hooge, Ype Elgersma, Steven A. Kushner, Eric Legius, Hilde Brems
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Abstract Background RASopathies are a group of disorders that result from mutations in genes coding for proteins involved in regulating the Ras-MAPK signaling pathway, and have an increased incidence of autism spectrum disorder (ASD). Legius syndrome
Externí odkaz:
https://doaj.org/article/c34e36dab9764853acb1f0fa4ca45263
Autor:
Joris Comhair, Jens Devoght, Giovanni Morelli, Robert J. Harvey, Victor Briz, Sarah C. Borrie, Claudia Bagni, Jean-Michel Rigo, Serge N. Schiffmann, David Gall, Bert Brône, Svetlana M. Molchanova
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Glycine receptors (GlyRs) containing the α2 subunit are highly expressed in the developing brain, where they regulate neuronal migration and maturation, promote spontaneous network activity and subsequent development of synaptic connections. Mutatio
Externí odkaz:
https://doaj.org/article/6a481c3cf15044ce8b124772c85503d4
Autor:
Hilde Brems, Sarah C. Borrie, Eric Legius, Akihiko Yoshimura, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, Rudi D'Hooge, Steven A. Kushner, Ype Elgersma
Publikováno v:
Molecular Autism, 12(1):53. BioMed Central Ltd.
Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Molecular Autism
Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Molecular Autism
Background RASopathies are a group of disorders that result from mutations in genes coding for proteins involved in regulating the Ras-MAPK signaling pathway, and have an increased incidence of autism spectrum disorder (ASD). Legius syndrome is a rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f63ea1d95a806943bd74a448ccd6417e
https://lirias.kuleuven.be/handle/123456789/679356
https://lirias.kuleuven.be/handle/123456789/679356
Autor:
Hilde Brems, Maksym V. Kopanitsa, Alexa E. Horner, Akihiko Yoshimura, Sarah C. Borrie, Eric Legius
Publikováno v:
Genes, Brain and Behavior. 20
RASopathies are neuro-cardio-facio-cutaneous disorders stemming from mutations in genes regulating the RAS-MAPK pathway. Legius syndrome is a rare RASopathy disorder caused by mutations in the SPRED1 gene. SPRED1 protein negatively regulates activati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca33fbaf7f51a8a97967238f606fa361
https://doi.org/10.1111/gbb.12727
https://doi.org/10.1111/gbb.12727
Publikováno v:
Annual Review of Genomics and Human Genetics. 18:115-142
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as cancer regulatory pathways but have now been demonstrated to be critical for synaptic plasticity and behavior. Neurodevelopmental disorders arising from mutations in thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8010867ac36e13e97c757ebb409428f5
https://doi.org/10.1146/annurev-genom-091416-035332
https://doi.org/10.1146/annurev-genom-091416-035332
Autor:
Eric Legius, Sarah C. Borrie, Hilde Brems, Ellen Plasschaert, Ype Elgersma, Steven A. Kushner
Publikováno v:
Frontiers in Neuroscience. 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6183efe14e5bca9e03007737672eacb3
https://doi.org/10.3389/conf.fnins.2017.94.00027
https://doi.org/10.3389/conf.fnins.2017.94.00027
Autor:
Dieter R. Zimmermann, Stephan Sickinger, Sarah C. Borrie, María T. Dours-Zimmermann, Antje Kurz, Christine E. Bandtlow, Bastian E. Bäumer
Publikováno v:
The Journal of Neuroscience. 34:1633-1646
Primary sensory afferents of the dorsal root ganglion (DRG) that innervate the skin detect a wide range of stimuli, such as touch, temperature, pain, and itch. Different functional classes of nociceptors project their axons to distinct target zones w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe957071940a83783f4e6772a251d931
https://doi.org/10.1523/jneurosci.3094-13.2014
https://doi.org/10.1523/jneurosci.3094-13.2014
Autor:
Claudia Bagni, Sarah C. Borrie
The DISC1-interacting protein CAMDI has been suggested to promote radial migration through centrosome regulation. However, its physiological relevance is unclear. Here, we report the generation and characterization of CAMDI-deficient mice. CAMDI-defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c58cd7487106b694c8725a8a9ecb0b
https://europepmc.org/articles/PMC5283590/
https://europepmc.org/articles/PMC5283590/
Autor:
Gyorgy Szabadkai, Aleck W.E. Jones, Dongchon Kang, Takehiro Yasukawa, Sarah C. Borrie, Jan-Willem Taanman, Henna Tyynismaa, Heini Ruhanen
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1803:931-939
Single-stranded DNA binding protein (SSB) plays important roles in DNA replication, recombination and repair through binding to single-stranded DNA. The mammalian mitochondrial SSB (mtSSB) is a bacterial type SSB. In vitro, mtSSB was shown to stimula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cc9ecd9c2390a070f0ace175b3853c
https://doi.org/10.1016/j.bbamcr.2010.04.008
https://doi.org/10.1016/j.bbamcr.2010.04.008
Autor:
Sarah C. Borrie, Christine E. Bandtlow, Nicolas Singewald, Simone B. Sartori, Julian Lehmann, Anupam Sah
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 8 (2014)
Frontiers in Behavioral Neuroscience
Frontiers in Behavioral Neuroscience
Molecular mechanisms which stabilize dendrites and dendritic spines are essential for regulation of neuronal plasticity in development and adulthood. The class of Nogo receptor proteins, which are critical for restricting neurite outgrowth inhibition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c31e8d3e78de957f493cadf010e3dd7
http://journal.frontiersin.org/Journal/10.3389/fnbeh.2014.00175/full
http://journal.frontiersin.org/Journal/10.3389/fnbeh.2014.00175/full