ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Authors: Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

Source: In The American Journal of Human Genetics 2 May 2013 92(5):681-695

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

Authors: Ricciardi, Sara¹, Ungaro, Federica², Hambrock, Melanie³, Rademacher, Nils⁴, Stefanelli, Gilda¹, Brambilla, Dario⁵, Sessa, Alessandro¹, Magagnotti, Cinzia⁶, Bachi, Angela⁶, Giarda, Elisa⁷, Verpelli, Chiara⁸, Kilstrup-Nielsen, Charlotte⁷, Sala, Carlo⁸, Kalscheuer, Vera M.⁴, Broccoli, Vania¹

Source: Nature Cell Biology; Sep2012, Vol. 14 Issue 9, p911-923, 13p, 3 Color Photographs, 1 Black and White Photograph, 1 Chart, 12 Graphs

This result is not displayed to guests.
Login for full access.

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization.

Authors: Krauß, Sybille, So, Joyce, Hambrock, Melanie, hler, Andrea Kö, Kunath, Melanie, Scharff, Constance, Wessling, Martina, Grzeschik, Karl-Heinz, Schneider, Rainer, Schweiger, Susann

Source: PLoS ONE; 2009, Vol. 4 Issue 10, p1-13, 13p, 1 Black and White Photograph, 3 Diagrams, 2 Charts, 4 Graphs

Subject Terms: TRANSCRIPTION factors, GENETIC mutation, SYNDROMES, PHOSPHOPROTEIN phosphatases, BRAIN function localization, PHOSPHORYLATION, DISEASES, NEUROSCIENCES, PATHOLOGY

This result is not displayed to guests.
Login for full access.