Výsledky vyhledávání - "Sabrina Luilier"

Akademický článek

Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: Implications for Down syndrome

Autor: François Mouton-Liger, Ignasi Sahún, Thibault Collin, Patricia Lopes Pereira, Debora Masini, Sophie Thomas, Evelyne Paly, Sabrina Luilier, Sandra Même, Quentin Jouhault, Soumia Bennaï, Jean-Claude Beloeil, Jean-Charles Bizot, Yann Hérault, Mara Dierssen, Nicole Créau

Publikováno v: Neurobiology of Disease, Vol 63, Iss , Pp 92-106 (2014)

PCP4/PEP19 is a modulator of Ca2+-CaM signaling. In the brain, it is expressed in a very specific pattern in postmitotic neurons. In particular, Pcp4 is highly expressed in the Purkinje cell, the sole output neuron of the cerebellum. PCP4, located on

Externí odkaz: https://doaj.org/article/95cef5a510e1441f9804b7f658e5a053

Zobrazit plný text záznamu

Akademický článek

Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.

Autor: Vinciane Régnier, Jean-Marie Billard, Sapna Gupta, Brigitte Potier, Stéphanie Woerner, Evelyne Paly, Aurélie Ledru, Sabrina David, Sabrina Luilier, Jean-Charles Bizot, Guido Vacano, Jan P Kraus, David Patterson, Warren D Kruger, Jean M Delabar, Jaqueline London

Publikováno v: PLoS ONE, Vol 7, Iss 1, p e29056 (2012)

The cystathionine β-synthase (CBS) gene, located on human chromosome 21q22.3, is a good candidate for playing a role in the Down Syndrome (DS) cognitive profile: it is overexpressed in the brain of individuals with DS, and it encodes a key enzyme of

Externí odkaz: https://doaj.org/article/0b397ddeef404ea3802e5fffda370b15

Zobrazit plný text záznamu

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. : Synaptic dysfunction in myotonic dystrophy

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2013, 136 (Pt 3), pp.957-70. ⟨10.1093/brain/aws367⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 3), pp.957-70. ⟨10.1093/brain/aws367⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 3), pp.957-70. 〈10.1093/brain/aws367〉

International audience; Myotonic dystrophy type 1 is a complex multisystemic inherited disorder, which displays multiple debilitating neurological manifestations. Despite recent progress in the understanding of the molecular pathogenesis of myotonic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d4d31ff5c6ae571d4b36eeb50c2169b
https://www.hal.inserm.fr/inserm-00795195/document

Zobrazit plný text záznamu

Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase

Autor: Sabrina David, Warren D. Kruger, Jean-Marie Billard, Sapna Gupta, Aurélie Ledru, Brigitte Potier, Jaqueline London, Evelyne Paly, Guido N. Vacano, Sabrina Luilier, Jean M. Delabar, Jean-Charles Bizot, David Patterson, Vinciane Régnier, Jan P. Kraus, Stephanie Woerner

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2012, 7 (1), pp.e29056. ⟨10.1371/journal.pone.0029056⟩
PLoS ONE, Vol 7, Iss 1, p e29056 (2012)
PLoS ONE, 2012, 7 (1), pp.e29056. ⟨10.1371/journal.pone.0029056⟩

Background The cystathionine β-synthase (CBS) gene, located on human chromosome 21q22.3, is a good candidate for playing a role in the Down Syndrome (DS) cognitive profile: it is overexpressed in the brain of individuals with DS, and it encodes a ke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6caeb2ab15de1296da4a65367294de48
https://hal-normandie-univ.archives-ouvertes.fr/hal-02325162

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání