Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.

Autor: Chen-Jei Hong, Bruce A Hamilton

Publikováno v: PLoS Genetics, Vol 12, Iss 10, p e1006357 (2016)

Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and

Externí odkaz: https://doaj.org/article/d5143041eff744bcb349bf0465a2f6b0

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Autor: Elizabeth Garner, Gokul Ramaswami, Sharon P. Andreoli, Colin A. Johnson, Stef J.F. Letteboer, Rudel A. Saunders, Stéphanie Le Corre, Heon Yung Gee, Agata Smogorzewska, Ali A. Al-Rajhi, Friedhelm Hildebrandt, Weibin Zhou, Dan G. Doherty, K. Vanselow, Gerd Walz, Joseph G. Gleeson, Bernhard Schermer, Rui Chen, Ranjani Sri Ganji, Peter Nürnberg, Christelle Golzio, Max C. Liebau, Anna Lindstrad, Moumita Chaki, Irma Lopez, Rachel H. Giles, Ronald Roepman, Shaohui Wang, John F. O’Toole, Takayuki Yasunaga, Nicholas Katsanis, Hélène Dollfus, Sivakumar Natarajan, Rannar Airik, Amiya K. Ghosh, Igor Cervenka, Hervé Husson, Heleen H. Arts, John A. Sayer, JoAnn Sekiguchi, Lars Pape, Gisela G. Slaats, Chen Jei Hong, Oxana Ibraghimov-Beskrovnaya, Hui Wang, Massimo Attanasio, Thomas Benzing, Edgar A. Otto, Gudrun Nürnberg, Iain A. Drummond, Emad B. Abboud, Vitezslav Bryja, Jeroen van Reeuwijk, Ahmet Nayir, Huanan Ren, Corinne Antignac, Joseph Shlomai, Robert K. Koenekoop, Lorraine Eley, Toby W. Hurd, Rustin Massoudi, Sophie Saunier, Sabine Janssen, Andrew Cluckey, Jens S. Andersen, Susan J. Allen, Eva Y.-H. P. Lee, Machteld M. Oud, Heymut Omran, Corinne Stoetzel, Bruce A. Hamilton, Richard A. Lewis, Shawn Levy

Publikováno v: Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling ', Cell Stem Cell, vol. 150, no. 3, pp. 533-48 . https://doi.org/10.1016/j.cell.2012.06.028
Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling ', Cell, vol. 150, no. 3, pp. 533-548 . https://doi.org/10.1016/j.cell.2012.06.028
Cell; Vol 150
Cell, 150, 533-48
Cell, 150, 3, pp. 533-48

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as ‘ciliopathies’. However, diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb5f62a57a586765667cd76396c933f

Cdk5 Promotes Synaptogenesis by Regulating the Subcellular Distribution of the MAGUK Family Member CASK

Autor: Yi-Ping Hsueh, Rachael L. Neve, Huang Chun Tseng, Haoya Liang, Benjamin Adam Samuels, Tianzhi Shu, Janet Volker, Li-Huei Tsai, Susan C. Su, David T. Yue, Chen Jei Hong

Publikováno v: Neuron. 56:823-837

Summary Synaptogenesis is a highly regulated process that underlies formation of neural circuitry. Considerable work has demonstrated the capability of some adhesion molecules, such as SynCAM and Neurexins/Neuroligins, to induce synapse formation in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b55eb0079287d1296bea2f40136a6a50
https://doi.org/10.1016/j.neuron.2007.09.035

CASK associates with glutamate receptor interacting protein and signaling molecules

Autor: Yi-Ping Hsueh, Chen-Jei Hong

Publikováno v: Biochemical and Biophysical Research Communications. 351:771-776

CASK has been implicated in synaptic protein targeting, synaptic organization, and transcriptional regulation. Here, three more CASK associated proteins, GRIP1, PKCepsilon, and RGS4, were initially identified by immunoprecipitation and mass analysis,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daca4ce850d6b28d8ca0f5707033301e
https://doi.org/10.1016/j.bbrc.2006.10.113

X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth

Autor: Yi-Ping Hsueh, Hsu-Ling Chien, Ting-Yu Kuo, Chen-Jei Hong

Publikováno v: Journal of neuroscience research. 88(11)

Calcium/calmodulin-dependent serine kinase (CASK), a causative gene in X-linked mental retardation, carries out multiple functions in neurons, including vesicle trafficking of ion channels, synapse formation, and gene transcription. From a yeast two-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50355f142501869f54c0a3950b5da2ab
https://pubmed.ncbi.nlm.nih.gov/20623620