Results 71 to 80 of about 8,015 (203)
NudEL targets dynein to microtubule ends through LIS1 [PDF]
Nature Cell Biology, 2005 Dynein is a minus-end-directed microtubule motor with critical roles in mitosis, membrane transport and intracellular transport. Several proteins regulate dynein activity, including dynactin, LIS1 (refs 2, 3) and NudEL (NudE-like). Here, we identify a NUDEL homologue in budding yeast and name it Ndl1. The ndl1delta null mutant shows decreased targeting Jun, Li, Wei-Lih, Lee, John A, Cooperopenaire +2 more sourcesGENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM
Sabiad, 2022 Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey +4 moredoaj +1 more sourceMicrotubules gate tau condensation to spatially regulate microtubule functions. [PDF]
, 2019 Tau is an abundant microtubule-associated protein in neurons. Tau aggregation into insoluble fibrils is a hallmark of Alzheimer's disease and other types of dementia1, yet the physiological state of tau molecules within cells remains unclear.A Ettinger, A Hernandez-Vega, A Kremer, A Seitz, Aileen J. Lam, AR Duan, B Niewidok, BY Monroy, Dan W. Nowakowski, DP McVicker, DP McVicker, EH Kellogg, H Hagiwara, H Zempel, HT Hoang, J Baumbach, JA Garcia-Leon, Jisoo Han, K Tepper, Kassandra M. Ori-McKenney, KM Ori-McKenney, KS Hubbard, L Qiang, L Urnavicius, LC Kapitein, M Goedert, M Vershinin, M Vershinin, MH Hinrichs, Michael Vershinin, PA Gutierrez, R Dixit, R Zhang, RD Vale, Richard J. McKenney, RJ McKenney, RJ McKenney, Ruensern Tan, S Ambadipudi, S Konzack, S Wegmann, S Wegmann, Sergi Simó, SR White, Tracy Tan, V Makrides, W Yu, XH Li +47 morecore +1 more sourceAn Essential Postdevelopmental Role for Lis1 in Mice [PDF]
eneuro, 2018 LIS1 mutations cause lissencephaly (LIS), a severe developmental brain malformation. Much less is known about its role in the mature nervous system. LIS1 regulates the microtubule motor cytoplasmic dynein 1 (dynein), and as LIS1 and dynein are both expressed in the adult nervous system, Lis1 could potentially ...Timothy J. Hines, Xu Gao, Subhshri Sahu, Meghann M. Lange, Jill R. Turner, Jeffery L. Twiss, Deanna S. Smith +6 moreopenaire +2 more sourcesChern-Simons Matter Theories and Higher Spin Gravity
, 2017 We compute the parity violating three point amplitudes with one scalar leg in
higher spin gravity and compare results with those of Chern-Simons matter
theories. The three-point correlators of the free boson, free fermion, critical
vector model and Gross-Sezgin, Ergin, Skvortsov, Evgeny D., Zhu, Yaodong +2 morecore +1 more sourceDISC1 genetics, biology and psychiatric illness [PDF]
, 2013 Psychiatric disorders are highly heritable, and in many individuals likely arise from the combined effects of genes and the environment. A substantial body of evidence points towards DISC1 being one of the genes that influence risk of schizophrenia ...A. Amador-Arjona, A. Ames 3rd, A. Chen, A. Crepel, A. D. Lopez, A. Dammermann, A. Enomoto, A. Giorgio Di, A. Guven, A. Hayashi-Takagi, A. Honda, A. Ingason, A. J. Ramsey, A. K. Alkhaja, A. K. Kähler, A. Kamiya, A. Kamiya, A. Louvi, A. Marley, A. Meyer-Lindenberg, A. Olincy, A. R. Kriegstein, A. Ram Murthy, A. Rastogi, A. Rauch, A. Raznahan, A. Schosser, A. Serretti, A. Steinecke, A. Wynshaw-Boris, A. Wynshaw-Boris, B. A. Karpinski, B. Abazyan, B. C. Carlyle, B. J. Maher, B. K. Tiwary, B. Kirkpatrick, C. H. Chiang, C. Korth, C. Korth, C. L. Frank, C. Lam, C. M. Drerup, C. Ott, C. P. Austin, D. Bartsch, D. C. Soares, D. H. Blackwood, D. Ibi, D. M. Collins, D. P. Prata, D. P. Prata, D. Porteous, D. R. Lemos, D. Wu, D. Zhou, E. A. Nigg, E. K. Green, E. K. Green, E. Kang, E. L. Malavasi, E. S. Gershon, E. Spiteri, E. Sprooten, F. H. Lee, F. Hildebrandt, F. Mouaffak, F. N. Haque, F. Papaleo, F. S. Alkuraya, F. Silva Alves da, F. Zheng, G. B. John, G. Chakirova, G. M. Rice, G. Rienzo De, G. T. Rezin, G. W. Beecham, H. B. Clay, H. C. Whalley, H. J. Carlisle, H. Koike, H. Le-Niculescu, H. Murdoch, H. Murdoch, H. R. Higginbotham, H. Shoji, H. Toda, I. Filges, I. Mata, I. Mathieson, J. A. Lee, J. A. Morris, J. A. Siuciak, J. An, J. C. Crabbe, J. D. Wood, J. E. Buizer-Voskamp, J. E. Chubb, J. E. Eykelenboom, J. E. Landers, J. E. Zimmerman, J. H. Callicott, J. Ikuta, J. J. Breunig, J. K. Millar, J. K. Millar, J. K. Millar, J. K. Millar, J. K. Millar, J. Os van, J. P. McEvoy, J. S. Domire, J. Schumacher, J. Y. Kim, J. Y. Kim, J. Yingling, J.M. Williams, K. Ameri, K. D. Meyer, K. E. Burdick, K. E. Miller, K. Ishizuka, K. Jepsen, K. K. Nicodemus, K. K. Singh, K. K. Singh, K. Kubo, K. Kuroda, K. Maeda, K. Miyoshi, K. Miyoshi, K. Mykytyn, K. Nakata, K. R. Rosenbloom, K. Tomita, K. Ushijima, K. Wulff, K. Wulff, L. A. Greene, L. K. Paul, L. M. Houlihan, L. Ma, L. N. Moens, L. V. Kristiansen, L.M. Camargo, M. A. Carless, M. A. Trinh, M. Ayalew, M. Bakircioglu, M. Costa-Mattioli, M. Costa-Mattioli, M. D. Houslay, M. Gentile, M. Händel, M. Kuijpers, M. Kvajo, M. Kvajo, M. M. Chakravarty, M. Niwa, M. S. Taylor, M. V. Pletnikov, M. Valiente, M. Yi, M.J. Puthuran, N. A. Sachs, N. D. Hanson, N. F. Berbari, N. J. Bradshaw, N. J. Bradshaw, N. J. Bradshaw, N. J. Brandon, N. J. Brandon, N. J. Brandon, N. Kumamoto, N. Osbun, N. Sawamura, N. Sawamura, O. M. Palo, O. Reiner, O. Zuk, P. A. Thomson, P. F. Sullivan, P. Jia, P. Katsel, P. Ottis, P. R. Szeszko, P. Saetre, P. Schulz, Q. Wang, Q. Wei, R. 3. Flores, R. Boxall, R. Debono, R. Hashimoto, R. James, R. L. Faulkner, R. M. Walker, S. Brauns, S. C. Vernes, S. Chiba, S. E. Harris, S. Hoppins, S. J. Clapcote, S. Kim, S. Koyanagi, S. L. Eastwood, S. L. Eastwood, S. M. Brown, S. Narayanan, S. R. Leliveld, S. R. Leliveld, S. Sasaki, S. Seshadri, S. Shen, S. Shimizu, S. Taya, S. Y. Chen, T. A. Atkin, T. A. Atkin, T. A. Green, T. D. Cannon, T. Fujita, T. Fukuda, T. Hikida, T. Igarashi, T. J. Stuhlmiller, T. L. Gasperoni, T. L. Young-Pearse, T. L. Young-Pearse, T. Nagai, T. Namba, T. Shinoda, T. Takahashi, T. V. Lipina, T. V. Lipina, T. V. Lipina, V. M. Pogorelov, W. Hennah, W. Hennah, W. Hennah, W. Li, W. Song, W. Song, X. Duan, X. J. Han, X. Zhou, X. Zhou, Y. Feng, Y. G. Han, Y. Hotta, Y. Mao, Y. Ozeki, Y. U. Park, Y. Wang, Y. Watatani +255 morecore +1 more sourceClinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Epilepsia, Volume 67, Issue 1, Page 272-290, January 2026.Abstract Objective
To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods
We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini +50 morewiley +1 more sourceFighting Cancer Stem Cell Fate by Targeting LIS1 a WD40 Repeat Protein
Frontiers in Oncology, 2019 Cancer is one of the most frequent and devastating diseases. Previous reports have shown that radio and chemo-resistant cancer stem cell (CSC) population is primarily responsible for cancer recurrences after radiotherapy and chemotherapy.Felix M. Brehar, Felix M. Brehar, Mihnea P. Dragomir, Mihnea P. Dragomir, George E. D. Petrescu, George E. D. Petrescu, Radu M. Gorgan, Radu M. Gorgan +7 moredoaj +1 more source