en Experimental Neurobiology

Cited by CrossRef (8)

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    https://doi.org/10.1038/s41380-021-01216-9
  2. 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
  3. 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
  4. 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
  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. 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
  7. 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
  8. 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