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Items: 1 to 20 of 23

1.
Neurodegeneration with brain iron accumulation
SUSAN J. HAYFLICK, MANJU A. KURIAN, PENELOPE HOGARTH
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 26.
Published in final edited form as: Handb Clin Neurol. 2018; 147: 293–305. doi: 10.1016/B978-0-444-63233-3.00019-1
PMCID:
PMC8235601
AbstractArticlePDF–695K
2.
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
3.
A therapeutic approach to pantothenate kinase associated neurodegeneration
Lalit Kumar Sharma, Chitra Subramanian, Mi-Kyung Yun, Matthew W. Frank, Stephen W. White, Charles O. Rock, Richard E. Lee, Suzanne Jackowski
Nat Commun. 2018; 9: 4399. Published online 2018 Oct 23. doi: 10.1038/s41467-018-06703-2
PMCID:
PMC6199309
AbstractArticlePDF–2.5M
4.
Excess Coenzyme A Reduces Skeletal Muscle Performance and Strength in Mice Overexpressing Human PANK2
Deborah R. Corbin, Jerold E. Rehg, Danielle L. Shepherd, Peter Stoilov, Ryan J. Percifield, Linda Horner, Sharon Frase, Yong-Mei Zhang, Charles O. Rock, John M. Hollander, Suzanne Jackowski, Roberta Leonardi
Mol Genet Metab. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Mol Genet Metab. 2017 Apr; 120(4): 350–362. Published online 2017 Feb 3. doi: 10.1016/j.ymgme.2017.02.001
PMCID:
PMC5382100
AbstractArticlePDF–1.6M
5.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model
Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody Sibon, Maurizio Moggio, Giulia d’Amati, Valeria Tiranti
Brain. 2014 Jan; 137(1): 57–68. Published online 2013 Dec 6. doi: 10.1093/brain/awt325
PMCID:
PMC3891449
AbstractArticlePDF–1.7M
6.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D'Amato, Carla Giordano, Giulia d'Amati, Anna Cozzi, Sonia Levi, Susan Hayflick, Valeria Tiranti
Hum Mol Genet. 2012 Dec 15; 21(24): 5294–5305. Published online 2012 Sep 13. doi: 10.1093/hmg/dds380
PMCID:
PMC3510755
AbstractArticlePDF–561K
7.
Compartmentalization of Mammalian Pantothenate Kinases
Adolfo Alfonso-Pecchio, Matthew Garcia, Roberta Leonardi, Suzanne Jackowski
PLoS One. 2012; 7(11): e49509. Published online 2012 Nov 13. doi: 10.1371/journal.pone.0049509
PMCID:
PMC3496714
AbstractArticlePDF–4.5M
8.
Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain
Donny D. Licatalosi, Masato Yano, John J. Fak, Aldo Mele, Sarah E. Grabinski, Chaolin Zhang, Robert B. Darnell
Genes Dev. 2012 Jul 15; 26(14): 1626–1642. doi: 10.1101/gad.191338.112
PMCID:
PMC3404389
AbstractArticlePDF–3.4M
9.
Germline Deletion of Pantothenate Kinases 1 and 2 Reveals the Key Roles for CoA in Postnatal Metabolism
Matthew Garcia, Roberta Leonardi, Yong-Mei Zhang, Jerold E. Rehg, Suzanne Jackowski
PLoS One. 2012; 7(7): e40871. Published online 2012 Jul 17. doi: 10.1371/journal.pone.0040871
PMCID:
PMC3398950
AbstractArticlePDF–791K
10.
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
11.
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
12.
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha
Cell. Author manuscript; available in PMC 2009 Nov 18.
Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016
PMCID:
PMC2778844
AbstractArticlePDF–1.2M
13.
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
Yien-Ming Kuo, Jacque L. Duncan, Shawn K. Westaway, Haidong Yang, George Nune, Eugene Yujun Xu, Susan J. Hayflick, Jane Gitschier
Hum Mol Genet. Author manuscript; available in PMC 2007 Dec 5.
Published in final edited form as: Hum Mol Genet. 2005 Jan 1; 14(1): 49–57. Published online 2004 Nov 3. doi: 10.1093/hmg/ddi005
PMCID:
PMC2117329
AbstractArticlePDF–1.0M
14.
Localization and Regulation of Mouse Pantothenate Kinase 2
Roberta Leonardi, Yong-Mei Zhang, Athanasios Lykidis, Charles O. Rock, Suzanne Jackowski
FEBS Lett. Author manuscript; available in PMC 2007 Oct 17.
Published in final edited form as: FEBS Lett. 2007 Oct 2; 581(24): 4639–4644. Published online 2007 Sep 7. doi: 10.1016/j.febslet.2007.08.056
PMCID:
PMC2034339
AbstractArticlePDF–800K
15.
Chemical Knockout of Pantothenate Kinase Reveals the Metabolic and Genetic Program Responsible for Hepatic Coenzyme A Homeostasis
Yong-Mei Zhang, Shigeru Chohnan, Kristopher G. Virga, Robert D. Stevens, Olga R. Ilkayeva, Brett R. Wenner, James R. Bain, Christopher B. Newgard, Richard E. Lee, Charles O. Rock, Suzanne Jackowski
Chem Biol. Author manuscript; available in PMC 2007 Jun 15.
Published in final edited form as: Chem Biol. 2007 Mar; 14(3): 291–302. doi: 10.1016/j.chembiol.2007.01.013
PMCID:
PMC1892532
AbstractArticlePDF–1.5M
16.
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
17.
Post-entrapment genome engineering: First exon size does not affect the expression of fusion transcripts generated by gene entrapment
Anna B. Osipovich, Aparna Singh, H. Earl Ruley
Genome Res. 2005 Mar; 15(3): 428–435. doi: 10.1101/gr.3258105
PMCID:
PMC551569
AbstractArticlePDF–286K
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.
GenePaint.org: an atlas of gene expression patterns in the mouse embryo
Axel Visel, Christina Thaller, Gregor Eichele
Nucleic Acids Res. 2004 Jan 1; 32(Database issue): D552–D556. doi: 10.1093/nar/gkh029
PMCID:
PMC308763
AbstractArticlePDF–253K

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