PMC Links for Gene (Select 67790) - PMC

Select item 101480581.

Increased level of RAB39B leads to neuronal dysfunction and behavioural changes in mice

Zijie Wang, Mengxi Niu, Naizhen Zheng, Jian Meng, Yiru Jiang, Dingting Yang, Peijie Yao, Tingting Yao, Hong Luo, Huaxi Xu, Yunlong Ge, Yun‐wu Zhang, Xian Zhang

J Cell Mol Med. 2023 May; 27(9): 1214–1226. Published online 2023 Mar 28. doi: 10.1111/jcmm.17704

PMCID:: PMC10148058

Article PDF–8.8M

Select item 87600752.

RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour

Maria Lidia Mignogna, Stefano Musardo, Giulia Ranieri, Susanna Gelmini, Pedro Espinosa, Paolo Marra, Sara Belloli, Valentina Murtaj, Rosa Maria Moresco, Camilla Bellone, Patrizia D’Adamo

Mol Psychiatry. 2021; 26(11): 6531–6549. Published online 2021 May 25. doi: 10.1038/s41380-021-01155-5

PMCID:: PMC8760075

Article PDF–4.3M

Select item 77530413.

RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy

Mengxi Niu, Naizhen Zheng, Zijie Wang, Yue Gao, Xianghua Luo, Zhicai Chen, Xing Fu, Yanyan Wang, Ting Wang, Manqing Liu, Tingting Yao, Peijie Yao, Jian Meng, Yunqiang Zhou, Yunlong Ge, Zhanxiang Wang, Qilin Ma, Huaxi Xu, Yun-wu Zhang

Front Cell Dev Biol. 2020; 8: 598622. Published online 2020 Dec 8. doi: 10.3389/fcell.2020.598622

PMCID:: PMC7753041

Article PDF–4.2M

Select item 71067964.

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart

Mol Brain. 2020; 13: 52. Published online 2020 Mar 30. doi: 10.1186/s13041-020-00584-7

PMCID:: PMC7106796

Article PDF–3.8M

Select item 90714005.

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model

Maria Lidia Mignogna, Romina Ficarella, Susanna Gelmini, Lucia Marzulli, Emanuela Ponzi, Alessandra Gabellone, Antonia Peschechera, Massino Alessio, Lucia Margari, Mattia Gentile, Patrizia D’Adamo

Hum Mol Genet. 2022 May 1; 31(9): 1389–1406. Published online 2021 Nov 11. doi: 10.1093/hmg/ddab320

PMCID:: PMC9071400

Article PDF–1.7M

Select item 28201856.

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, Patrizia D'Adamo

Am J Hum Genet. 2010 Feb 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011

PMCID:: PMC2820185

Article PDF–1.0M

Select item 43830087.

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio, Maria Passafaro, Silvia Gatti, José A. Esteban, Richard Huganir, Patrizia D’Adamo

Nat Commun. 2015 Mar 18; 6: 6504. Published online 2015 Mar 18. doi: 10.1038/ncomms7504

PMCID:: PMC4383008

Article PDF–3.7M

Select item 68139718.

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

Shangxi Xiao, Paul M. McKeever, Agnes Lau, Janice Robertson

Acta Neuropathol Commun. 2019; 7: 161. Published online 2019 Oct 24. doi: 10.1186/s40478-019-0812-5

PMCID:: PMC6813971

Article PDF–2.1M

Select item 71112669.

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

Wei Zhang, Li Ma, Mei Yang, Qiang Shao, Jian Xu, Zhipeng Lu, Zhen Zhao, Rong Chen, Yang Chai, Jian-Fu Chen

Genes Dev. 2020 Apr 1; 34(7-8): 580–597. doi: 10.1101/gad.332494.119

PMCID:: PMC7111266

Article PDF–16M

Select item 324844110.

Twist1 Directly Regulates Genes That Promote Cell Proliferation and Migration in Developing Heart Valves

Mary P. Lee, Katherine E. Yutzey

PLoS One. 2011; 6(12): e29758. Published online 2011 Dec 29. doi: 10.1371/journal.pone.0029758

PMCID:: PMC3248441

Article PDF–2.5M

Select item 491053311.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand

EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350

PMCID:: PMC4910533

Article PDF–1.5M

Select item 343226412.

Network Organization of the Huntingtin Proteomic Interactome in Mammalian Brain

Dyna I. Shirasaki, Erin R. Greiner, Ismael Al-Ramahi, Michelle Gray, Pinmanee Boontheung, Daniel H. Geschwind, Juan Botas, Giovanni Coppola, Steve Horvath, Joseph A. Loo, X. William Yang

Neuron. Author manuscript; available in PMC 2013 Jul 12.

Published in final edited form as: Neuron. 2012 Jul 12; 75(1): 41–57. doi: 10.1016/j.neuron.2012.05.024

PMCID:: PMC3432264

Article PDF–4.9M

Select item 1091766013.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Article PDF–4.8M

Select item 302253414.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582

PMCID:: PMC3022534

Article PDF–3.8M

Select item 52892815.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

Select item 31099216.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Article PDF–3.4M

Select item 31098017.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Article PDF–1.4M

Select item 13924118.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

Select item 317805919.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

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