Full text in PMC (nucleotide) for Gene (Select 50720) - PMC

Select item 64168581.

Sacs R272C missense homozygous mice develop an ataxia phenotype

Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais

Mol Brain. 2019; 12: 19. Published online 2019 Mar 12. doi: 10.1186/s13041-019-0438-3

PMCID:: PMC6416858

Abstract Article PDF–20M

Select item 61175482.

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS

Visou Ady, Brenda Toscano‐Márquez, Moushumi Nath, Philip K. Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R. Anne McKinney, Alanna J. Watt

J Physiol. 2018 Sep 1; 596(17): 4253–4267. Published online 2018 Jul 19. doi: 10.1113/JP275902

Correction in:: J Physiol. 2019 Jul; 597(13): 3503.

PMCID:: PMC6117548

Abstract Article PDF–1.5M

Select item 58862473.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Emma J. Duncan, Roxanne Larivière, Teisha Y. Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J. Hayes, Lisa E.L. Romano, Suran Nethisinghe, Paola Giunti, Michaela B. Bruntraeger, Heather D. Durham, Bernard Brais, Francesca Maltecca, Benoit J. Gentil, J. Paul Chapple

Hum Mol Genet. 2017 Aug 15; 26(16): 3130–3143. Published online 2017 May 23. doi: 10.1093/hmg/ddx197

PMCID:: PMC5886247

Abstract Article PDF–2.2M

Select item 42912494.

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Roxanne Larivière, Rébecca Gaudet, Benoit J. Gentil, Martine Girard, Talita Cristiane Conte, Sandra Minotti, Kim Leclerc-Desaulniers, Kalle Gehring, R. Anne McKinney, Eric A. Shoubridge, Peter S. McPherson, Heather D. Durham, Bernard Brais

Hum Mol Genet. 2015 Feb 1; 24(3): 727–739. Published online 2014 Sep 26. doi: 10.1093/hmg/ddu491

PMCID:: PMC4291249

Abstract Article PDF–1.9M

Select item 32771685.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt, Emily C. Deane, Rebecca Gaudet, Nadya Nossova, Francois Blondeau, George Prenosil, Esmeralda G. M. Vermeulen, Michael R. Duchen, Andrea Richter, Eric A. Shoubridge, Kalle Gehring, R. Anne McKinney, Bernard Brais, J. Paul Chapple, Peter S. McPherson

Proc Natl Acad Sci U S A. 2012 Jan 31; 109(5): 1661–1666. Published online 2012 Jan 17. doi: 10.1073/pnas.1113166109

PMCID:: PMC3277168

Abstract Article PDF–855K

Select item 26672856.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, J. Paul Chapple

Hum Mol Genet. 2009 May 1; 18(9): 1556–1565. Published online 2009 Feb 10. doi: 10.1093/hmg/ddp067

PMCID:: PMC2667285

Abstract Article PDF–441K

Select item 3877317.

Normal Development and Fertility of Knockout Mice Lacking the Tumor Suppressor Gene LRP1b Suggest Functional Compensation by LRP1

Peter Marschang, Jochen Brich, Edwin J. Weeber, J. David Sweatt, John M. Shelton, James A. Richardson, Robert E. Hammer, Joachim Herz

Mol Cell Biol. 2004 May; 24(9): 3782–3793. doi: 10.1128/MCB.24.9.3782-3793.2004

PMCID:: PMC387731

Abstract Article PDF–543K

Select item 3109928.

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

Abstract Article PDF–3.4M

Select item 3109809.

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

Abstract Article PDF–1.4M

Select item 13924110.

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

Abstract Article PDF–118K

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