en Experimental Neurobiology

Cited by CrossRef (13)

  1. Chae-Seok Lim, Min Jung Kim, Ja Eun Choi, Md Ariful Islam, You-Kyung Lee, Yinyi Xiong, Kyu-Won Shim, Jung-eun Yang, Ro Un Lee, Jiah Lee, Pojeong Park, Ji-Hye Kwak, Hyunhyo Seo, Chul Hoon Kim, Jae-Hyung Lee, Yong-Seok Lee, Su-Kyeong Hwang, Kyungmin Lee, Jin-A Lee, Bong-Kiun Kaang. Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice. Mol Psychiatry 2021;26:7538
    https://doi.org/10.1038/s41380-021-01216-9
  2. Kyeong-No Yoon, Sun Yong Kim, Jungeun Ji, Yidan Cui, Qing‐Ling Quan, Gunhyuk Park, Jang-Hee Oh, Ji Su Lee, Joon-Yong An, Jin Ho Chung, Yong-Seok Lee, Dong Hun Lee. Chronic ultraviolet irradiation induces memory deficits via dysregulation of the dopamine pathway. Exp Mol Med 2024;56:1401
    https://doi.org/10.1038/s12276-024-01242-x
  3. Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F. Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa. Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. Invest. Ophthalmol. Vis. Sci. 2020;61:18
    https://doi.org/10.1167/iovs.61.11.18
  4. Fathi S Milhem, Ameer Awashra, Husam Hamshary, Zaid Sawaftah, Amr Khaled, Noor Nabresi, Israa Salman. Cohen Syndrome With Complex Medical Complications: A Case Report. 2024
    https://doi.org/10.7759/cureus.66033
  5. You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee. Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. Mol Brain 2020;13
    https://doi.org/10.1186/s13041-020-00611-7
  6. Fabrizio Vacca, Binnaz Yalcin, Muhammad Ansar. Exploring the pathological mechanisms underlying Cohen syndrome. Front. Neurosci. 2024;18
    https://doi.org/10.3389/fnins.2024.1431400
  7. Berrak Ugur, William Hancock-Cerutti, Marianna Leonzino, Pietro De Camilli. Role of VPS13, a protein with similarity to ATG2, in physiology and disease. Current Opinion in Genetics & Development 2020;65:61
    https://doi.org/10.1016/j.gde.2020.05.027
  8. Hyopil Kim, Jae-Woo Jang, Su-Eon Sim, Jisu Lee, June-Hyun Jeong, Semin Park, You-Kyung Lee, Hyun-Ji Ham, Nam-Kyung Yu, Chae-Seok Lim, Fen-Biao Gao, Jin-A Lee, Bong-Kiun Kaang. Crucial role of Snf7-3 in synaptic function and cognitive behavior revealed by conventional and conditional knockout mouse models. Neuroscience 2024;560:347
    https://doi.org/10.1016/j.neuroscience.2024.10.010
  9. You-Kyung Lee, Su-Kyeong Hwang, Soo-Kyung Lee, Jung-eun Yang, Ji-Hye Kwak, Hyunhyo Seo, Hyunjun Ahn, Yong-Seok Lee, Janghwan Kim, Chae-Seok Lim, Bong-Kiun Kaang, Jae-Hyung Lee, Jin-A Lee, Kyungmin Lee. Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes. JCM 2020;9:1886
    https://doi.org/10.3390/jcm9061886
  10. Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk. Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients. Cells 2023;12:2702
    https://doi.org/10.3390/cells12232702
  11. Berrak Ugur, Florian Schueder, Jimann Shin, Michael G. Hanna, Yumei Wu, Marianna Leonzino, Maohan Su, Anthony R. McAdow, Catherine Wilson, John Postlethwait, Lilianna Solnica-Krezel, Joerg Bewersdorf, Pietro De Camilli. VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1. 2024;223
    https://doi.org/10.1083/jcb.202311189
  12. Rebekah Rakotonirina-Ricquebourg, Vítor Costa, Vitor Teixeira. Hello from the other side: Membrane contact of lipid droplets with other organelles and subsequent functional implications. Progress in Lipid Research 2022;85:101141
    https://doi.org/10.1016/j.plipres.2021.101141
  13. Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin. Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected. Neurobiology of Disease 2023;185:106259
    https://doi.org/10.1016/j.nbd.2023.106259