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Items: 1 to 20 of 21

1.
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease
Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M. Kanninen, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli
Cells. 2022 Jun; 11(11): 1840. Published online 2022 Jun 4. doi: 10.3390/cells11111840
PMCID:
PMC9180748
AbstractArticlePDF–2.7M
2.
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration
Anna V. Luebben, Daniel Bender, Stefan Becker, Lisa M. Crowther, Ilka Erven, Kay Hofmann, Johannes Söding, Henry Klemp, Cristina Bellotti, Andreas Stäuble, Tian Qiu, Rahul S. Kathayat, Bryan C. Dickinson, Jutta Gärtner, George M. Sheldrick, Ralph Krätzner, Robert Steinfeld
Sci Adv. 2022 Apr; 8(15): eabj8633. Published online 2022 Apr 15. doi: 10.1126/sciadv.abj8633
PMCID:
PMC9012467
AbstractArticlePDF–1.6M
3.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
4.
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Hum Mol Genet. 2018 May 15; 27(10): 1711–1722. Published online 2018 Mar 5. doi: 10.1093/hmg/ddy076
PMCID:
PMC5932567
AbstractArticlePDF–710K
5.
Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder
Ekaterina Savchenko, Yajuvinder Singh, Henna Konttinen, Katarina Lejavova, Laura Mediavilla Santos, Alexandra Grubman, Virve Kärkkäinen, Velta Keksa-Goldsteine, Nikolay Naumenko, Pasi Tavi, Anthony R. White, Tarja Malm, Jari Koistinaho, Katja M. Kanninen
Dis Model Mech. 2017 Sep 1; 10(9): 1089–1100. doi: 10.1242/dmm.029165
PMCID:
PMC5611964
AbstractArticle
6.
Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy
Henri Leinonen, Velta Keksa-Goldsteine, Symantas Ragauskas, Philip Kohlmann, Yajuvinder Singh, Ekaterina Savchenko, Jooseppi Puranen, Tarja Malm, Giedrius Kalesnykas, Jari Koistinaho, Heikki Tanila, Katja M. Kanninen
Sci Rep. 2017; 7: 1597. Published online 2017 May 9. doi: 10.1038/s41598-017-01716-1
PMCID:
PMC5431647
AbstractArticlePDF–2.8M
7.
The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons
Riccardo Vezzali, Stefan Christopher Weise, Nicole Hellbach, Venissa Machado, Stefanie Heidrich, Tanja Vogel
Oncotarget. 2016 Jun 21; 7(25): 37436–37455. Published online 2016 May 21. doi: 10.18632/oncotarget.9545
PMCID:
PMC5122323
AbstractArticlePDF–9.5M
8.
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen
Data Brief. 2016 Sep; 8: 741–749. Published online 2016 Jun 23. doi: 10.1016/j.dib.2016.06.027
PMCID:
PMC4950137
AbstractArticlePDF–4.5M
9.
Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice
Tea Blom, Mia-Lisa Schmiedt, Andrew M. Wong, Aija Kyttälä, Jarkko Soronen, Matti Jauhiainen, Jaana Tyynelä, Jonathan D. Cooper, Anu Jalanko
Dis Model Mech. 2013 Mar; 6(2): 342–357. Published online 2012 Oct 12. doi: 10.1242/dmm.010140
PMCID:
PMC3597017
AbstractArticle
10.
Wnt signaling mediates pathological vascular growth in proliferative retinopathy
Jing Chen, Andreas Stahl, Nathan M. Krah, Molly R. Seaward, Roberta J. Dennison, Przemyslaw Sapieha, Jing Hua, Colman J. Hatton, Aimee M. Juan, Christopher M. Aderman, Keirnan L. Willett, Karen I. Guerin, Akiko Mammoto, Matthew Campbell, Lois E.H. Smith
Circulation. Author manuscript; available in PMC 2012 Oct 25.
Published in final edited form as: Circulation. 2011 Oct 25; 124(17): 1871–1881. Published online 2011 Oct 3. doi: 10.1161/CIRCULATIONAHA.111.040337
PMCID:
PMC3326389
AbstractArticlePDF–2.4M
11.
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
AbstractArticlePDF–1.0M
12.
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
AbstractArticlePDF–3.8M
13.
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
Annina Lyly, Carina von Schantz, Claudia Heine, Mia-Lisa Schmiedt, Tessa Sipilä, Anu Jalanko, Aija Kyttälä
BMC Cell Biol. 2009; 10: 83. Published online 2009 Nov 26. doi: 10.1186/1471-2121-10-83
PMCID:
PMC2790443
AbstractArticlePDF–2.0M
14.
Progressive thalamocortical neuron loss in Cln5 deficient mice: distinct effects in Finnish variant late infantile NCL
Carina von Schantz, Catherine Kielar, Stine N Hansen, Charlie C Pontikis, Noreen A Alexander, Outi Kopra, Anu Jalanko, Jonathan D Cooper
Neurobiol Dis. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Neurobiol Dis. 2009 May; 34(2): 308–319. doi: 10.1016/j.nbd.2009.02.001
PMCID:
PMC2704904
AbstractArticlePDF–1.6M
15.
VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown
Azeb Tadesse Argaw, Blake T. Gurfein, Yueting Zhang, Andleeb Zameer, Gareth R. John
Proc Natl Acad Sci U S A. 2009 Feb 10; 106(6): 1977–1982. Published online 2009 Jan 27. doi: 10.1073/pnas.0808698106
PMCID:
PMC2644149
AbstractArticlePDF–998K
16.
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
Carina von Schantz, Juha Saharinen, Outi Kopra, Jonathan D Cooper, Massimiliano Gentile, Iiris Hovatta, Leena Peltonen, Anu Jalanko
BMC Genomics. 2008; 9: 146. Published online 2008 Mar 28. doi: 10.1186/1471-2164-9-146
PMCID:
PMC2323392
AbstractArticlePDF–1.8M
17.
BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System
Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran
PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086
PMCID:
PMC1413568
ArticlePDF–99K
18.
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
AbstractArticlePDF–3.4M
19.
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
AbstractArticlePDF–1.4M
20.
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
AbstractArticlePDF–118K

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