PMC Links for Gene (Select 214585) - PMC

Select item 53918471.

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M. Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios

Neurobiol Dis. 2017 Jun; 102: 21–37. doi: 10.1016/j.nbd.2017.02.007

PMCID:: PMC5391847

Article

Select item 109044952.

Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11

Michaela Hörner, Sandy Popp, Julien Branchu, Giovanni Stevanin, Frédéric Darios, Stephan Klebe, Janos Groh, Rudolf Martini

Front Neurosci. 2024; 18: 1299554. Published online 2024 Feb 16. doi: 10.3389/fnins.2024.1299554

PMCID:: PMC10904495

Article PDF–11M

Select item 106219963.

Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1

Alexandre Pierga, Raphaël Matusiak, Margaux Cauhapé, Julien Branchu, Lydia Danglot, Maxime Boutry, Frédéric Darios

PLoS Biol. 2023 Oct; 21(10): e3002337. Published online 2023 Oct 23. doi: 10.1371/journal.pbio.3002337

PMCID:: PMC10621996

Article PDF–9.2M

Select item 86323444.

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

Mukhran Khundadze, Federico Ribaudo, Adeela Hussain, Henry Stahlberg, Nahal Brocke-Ahmadinejad, Patricia Franzka, Rita-Eva Varga, Milena Zarkovic, Thanakorn Pungsrinont, Miriam Kokal, Ian G. Ganley, Christian Beetz, Marc Sylvester, Christian A. Hübner

Autophagy. 2021; 17(11): 3690–3706. Published online 2021 Mar 9. doi: 10.1080/15548627.2021.1891848

PMCID:: PMC8632344

Article PDF–19M

Select item 60457755.

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios

Cell Rep. 2018 Jun 26; 23(13): 3813–3826. Published online 2003 Jul 22. doi: 10.1016/j.celrep.2018.05.098

PMCID:: PMC6045775

Article

Select item 67977816.

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

Maxime Boutry, Alexandre Pierga, Raphaël Matusiak, Julien Branchu, Marc Houllegatte, Yoan Ibrahim, Elise Balse, Khalid-Hamid El Hachimi, Alexis Brice, Giovanni Stevanin, Frédéric Darios

Commun Biol. 2019; 2: 380. Published online 2019 Oct 17. doi: 10.1038/s42003-019-0615-z

PMCID:: PMC6797781

Article PDF–2.8M

Select item 43489747.

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

Jaerak Chang, Seongju Lee, Craig Blackstone

J Clin Invest. 2014 Dec 1; 124(12): 5249–5262. Published online 2014 Nov 3. doi: 10.1172/JCI77598

PMCID:: PMC4348974

Article PDF–10M

Select item 41404668.

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Francesc Pérez-Brangulí, Himanshu K. Mishra, Iryna Prots, Steven Havlicek, Zacharias Kohl, Domenica Saul, Christine Rummel, Jonatan Dorca-Arevalo, Martin Regensburger, Daniela Graef, Elisabeth Sock, Juan Blasi, Teja W. Groemer, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Beate Winner

Hum Mol Genet. 2014 Sep 15; 23(18): 4859–4874. Published online 2014 May 2. doi: 10.1093/hmg/ddu200

PMCID:: PMC4140466

Article PDF–2.4M

Select item 45404599.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J. Christopher Hennings, Patricia Franzka, Antje K. Huebner, Michael M. Kessels, Christoph Biskup, Thomas J. Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A. Hübner

PLoS Genet. 2015 Aug; 11(8): e1005454. Published online 2015 Aug 18. doi: 10.1371/journal.pgen.1005454

PMCID:: PMC4540459

Article PDF–12M

Select item 16551110.

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin

Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064

PMCID:: PMC165511

Article PDF–217K

Select item 793877011.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Article PDF–2.0M

Select item 255627012.

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin

Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108

PMCID:: PMC2556270

Article PDF–493K

Select item 28355413.

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100

Correction in:: Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.

PMCID:: PMC283554

Article PDF–481K

Select item 31099214.

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 31098015.

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 13924116.

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 317805917.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 17

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity