L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

Autor: Michael K.E. Schäfer, Yun-Chung Nam, Anice Moumen, Laura Keglowich, Elisabeth Bouché, Mercedes Küffner, Hans H. Bock, Fritz G. Rathjen, Cedric Raoul, Michael Frotscher

Publikováno v: Neurobiology of Disease, Vol 40, Iss 1, Pp 222-237 (2010)

Mutations in the human L1CAM gene cause neurodevelopmental disorders collectively referred to as L1 syndrome. Here, we investigated cellular pathomechanisms underlying two L1 syndrome mutations, R184Q and W1036L. We demonstrate that these mutations c

Externí odkaz: https://doaj.org/article/16e4986613644524ab5c65c5b266725c

Role of the postnatal radial glial scaffold for the development of the dentate gyrus as revealed by reelin signaling mutant mice

Autor: Petra May, Bianka Brunne, Elisabeth Bouché, Santos J. Franco, Jasmine Pahle, Michael Frotscher, Ulrich Müller, Hans H. Bock, Brian W. Howell, Joachim Herz

Publikováno v: Glia. 61:1347-1363

During dentate gyrus development, the early embryonic radial glial scaffold is replaced by a secondary glial scaffold around birth. In contrast to neocortical and early dentate gyrus radial glial cells, these postnatal glial cells are severely altere

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0eca273ff40491b8d7be19f26b34366
https://doi.org/10.1002/glia.22519

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

Autor: Michael K. E. Schäfer, Laura Keglowich, Elisabeth Bouché, Mariola Marx, Muriel Bozon, Nathalie Drouot, Valérie Castellani, Thierry Frebourg, Pascale Saugier-Veber, Simone Diestel, Marie Minz

Publikováno v: neurogenetics
neurogenetics, Springer Verlag, 2012, 13 (1), pp.49-59. ⟨10.1007/s10048-011-0307-4⟩

International audience; Mutations in the gene encoding the neural cell adhesion molecule L1CAM cause several neurological disorders collectively referred to as L1 syndrome. We report here a family case of X-linked hydrocephalus in which an obligate f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e9f09f5b0243dcf46747d6a0cbdf520
https://doi.org/10.1007/s10048-011-0307-4

Characterization and Distribution of Reelin-Positive Interneuron Subtypes in the Rat Barrel Cortex

Autor: Elisabeth Bouché, Csaba Dávid, Anastassios Karagiannis, Theresa Pohlkamp, Michael Frotscher, Bruno Cauli, Hans H. Bock, Joachim Herz, Petra May, Thierry Gallopin, Jochen F. Staiger

Publikováno v: Cerebral Cortex
Cerebral Cortex, Oxford University Press (OUP), 2014, 24 (11), pp.3046-3058. ⟨10.1093/cercor/bht161⟩
Cerebral Cortex, 2014, 24 (11), pp.3046-3058. ⟨10.1093/cercor/bht161⟩

International audience; GABAergic inhibitory interneurons (IN) represent a heterogeneous population with different electrophysiological, morphological, and molecular properties. The correct balance between interneuronal subtypes is important for brai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24044672391c76fe21cd6c1e8cb83b89
https://hal.archives-ouvertes.fr/hal-01541365

L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

Autor: Fritz G. Rathjen, Elisabeth Bouché, Michael K. E. Schäfer, Michael Frotscher, Laura Keglowich, Hans H. Bock, Cédric Raoul, Mercedes Küffner, Yun-Chung Nam, Anice Moumen

Publikováno v: Neurobiology of Disease, Vol 40, Iss 1, Pp 222-237 (2010)

Mutations in the human L1CAM gene cause neurodevelopmental disorders collectively referred to as L1 syndrome. Here, we investigated cellular pathomechanisms underlying two L1 syndrome mutations, R184Q and W1036L. We demonstrate that these mutations c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b57b9a0886890773c7b581321aa107b
https://pubmed.ncbi.nlm.nih.gov/20621658