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Items: 1 to 20 of 28

1.
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation
Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi, Anthony Blaeser
J Neuromuscul Dis. 2024; 11(2): 275–284. Prepublished online 2024 Jan 18. Published online 2024 Mar 5. doi: 10.3233/JND-230205
PMCID:
PMC10977439
AbstractArticlePDF–627K
2.
Functional genomic landscape of cancer-intrinsic evasion of killing by T cells
Keith A. Lawson, Cristovão M. Sousa, Xiaoyu Zhang, Eiru Kim, Rummy Akthar, Joseph J. Caumanns, Yuxi Yao, Nicholas Mikolajewicz, Catherine Ross, Kevin R. Brown, Abdelrahman Abou Zid, Zi Peng Fan, Shirley Hui, Jordan A. Krall, Donald M. Simons, Chloe J. Slater, Victor De Jesus, Lujia Tang, Richa Singh, Joshua E. Goldford, Sarah Martin, Qian Huang, Elizabeth A. Francis, Andrea Habsid, Ryan Climie, David Tieu, Jiarun Wei, Ren Li, Amy Hin Yan Tong, Michael Aregger, Katherine S. Chan, Hong Han, Xiaowei Wang, Patricia Mero, John H. Brumell, Antonio Finelli, Laurie Ailles, Gary Bader, Gromoslaw A. Smolen, Gillian A. Kingsbury, Traver Hart, Charles Kung, Jason Moffat
Nature. Author manuscript; available in PMC 2022 Apr 18.
Published in final edited form as: Nature. 2020 Oct; 586(7827): 120–126. Published online 2020 Sep 23. doi: 10.1038/s41586-020-2746-2
PMCID:
PMC9014559
AbstractArticlePDF–6.6M
3.
Degree of Cajal–Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy
Helen S. Booler, Josie L. Williams, Mark Hopkinson, Susan C. Brown
Brain Pathol. 2016 Jul; 26(4): 465–478. Published online 2015 Oct 12. doi: 10.1111/bpa.12306
PMCID:
PMC8029081
AbstractArticlePDF–5.8M
4.
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
5.
Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement After Gene Replacement Therapy
Charles Harvey Vannoy, Victoria Leroy, Katarzyna Broniowska, Qi Long Lu
Sci Rep. 2019; 9: 10070. Published online 2019 Jul 11. doi: 10.1038/s41598-019-46431-1
PMCID:
PMC6624266
AbstractArticlePDF–3.8M
6.
Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain
Mark R. Ackroyd, Charlotte Whitmore, Sarah Prior, Manuja Kaluarachchi, Margareta Nikolic, Ulrike Mayer, Francesco Muntoni, Susan C. Brown
J Neurosci. 2011 Sep 7; 31(36): 12927–12935. doi: 10.1523/JNEUROSCI.2301-11.2011
PMCID:
PMC6623409
AbstractArticlePDF–4.8M
7.
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression
Evelyne Gicquel, Natacha Maizonnier, Steven J. Foltz, William J. Martin, Nathalie Bourg, Fedor Svinartchouk, Karine Charton, Aaron M. Beedle, Isabelle Richard
Hum Mol Genet. 2017 May 15; 26(10): 1952–1965. Published online 2017 Mar 3. doi: 10.1093/hmg/ddx066
PMCID:
PMC6251615
AbstractArticlePDF–1.0M
8.
Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice
Marcela P. Cataldi, Peijuan Lu, Anthony Blaeser, Qi Long Lu
Nat Commun. 2018; 9: 3448. Published online 2018 Aug 27. doi: 10.1038/s41467-018-05990-z
PMCID:
PMC6110760
AbstractArticlePDF–4.2M
9.
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice
Charlotte Whitmore, Marta Fernandez-Fuente, Helen Booler, Callum Parr, Manoli Kavishwar, Attia Ashraf, Erica Lacey, Jihee Kim, Rebecca Terry, Mark R. Ackroyd, Kim E. Wells, Francesco Muntoni, Dominic J. Wells, Susan C. Brown
Hum Mol Genet. Author manuscript; available in PMC 2018 May 10.
Published in final edited form as: Hum Mol Genet. 2014 Apr 1; 23(7): 1842–1855. Published online 2013 Nov 13. doi: 10.1093/hmg/ddt577
PMCID:
PMC5944840
AbstractArticlePDF–3.6M
10.
Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo− mouse model of FKRP-deficient muscular dystrophy
Qing Yu, Melissa Morales, Ning Li, Alexander G. Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju, Christopher F. Spurney
Skelet Muscle. 2018; 8: 13. Published online 2018 Apr 6. doi: 10.1186/s13395-018-0158-x
PMCID:
PMC5889611
AbstractArticlePDF–2.1M
11.
Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice
Anthony Blaeser, Hiroyuki Awano, Pei Lu, Qi-Long Lu
PLoS One. 2018; 13(1): e0191016. Published online 2018 Jan 10. doi: 10.1371/journal.pone.0191016
PMCID:
PMC5761899
AbstractArticlePDF–9.5M
12.
Mouse models of human ocular disease for translational research
Mark P. Krebs, Gayle B. Collin, Wanda L. Hicks, Minzhong Yu, Jeremy R. Charette, Lan Ying Shi, Jieping Wang, Jürgen K. Naggert, Neal S. Peachey, Patsy M. Nishina
PLoS One. 2017; 12(8): e0183837. Published online 2017 Aug 31. doi: 10.1371/journal.pone.0183837
PMCID:
PMC5578669
AbstractArticlePDF–26M
13.
Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice
Anthony Blaeser, Hiroyuki Awano, Bo Wu, Qi-Long Lu
PLoS One. 2016; 11(10): e0164187. Published online 2016 Oct 6. doi: 10.1371/journal.pone.0164187
PMCID:
PMC5053477
AbstractArticlePDF–3.0M
14.
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i
Joseph W. Maricelli, Qi L. Lu, David C. Lin, Buel D. Rodgers
PLoS One. 2016; 11(9): e0161984. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0161984
PMCID:
PMC5023177
AbstractArticlePDF–3.6M
15.
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I
Paul J. Thomas, Rui Xu, Paul T. Martin
Am J Pathol. 2016 Sep; 186(9): 2429–2448. doi: 10.1016/j.ajpath.2016.05.021
Correction in:
Am J Pathol. 2016 Dec; 186(12): 3316.
PMCID:
PMC5012513
AbstractArticlePDF–8.1M
16.
Adeno-Associated Virus-Mediated Overexpression of LARGE Rescues α-Dystroglycan Function in Dystrophic Mice with Mutations in the Fukutin-Related Protein
Charles H. Vannoy, Lei Xu, Elizabeth Keramaris, Pei Lu, Xiao Xiao, Qi Long Lu
Hum Gene Ther Methods. 2014 Jun 1; 25(3): 187–196. Published online 2014 Mar 17. doi: 10.1089/hgtb.2013.151
PMCID:
PMC4124536
AbstractArticlePDF–917K
17.
AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan
Hirokazu Yagi, Naoki Nakagawa, Takuya Saito, Hiroshi Kiyonari, Takaya Abe, Tatsushi Toda, Sz-Wei Wu, Kay-Hooi Khoo, Shogo Oka, Koichi Kato
Sci Rep. 2013; 3: 3288. Published online 2013 Nov 21. doi: 10.1038/srep03288
PMCID:
PMC3836086
AbstractArticlePDF–6.0M
18.
Adeno-associated Virus 9 Mediated FKRP Gene Therapy Restores Functional Glycosylation of α-dystroglycan and Improves Muscle Functions
Lei Xu, Pei Juan Lu, Chi-Hsien Wang, Elizabeth Keramaris, Chunping Qiao, Bin Xiao, Derek J Blake, Xiao Xiao, Qi Long Lu
Mol Ther. 2013 Oct; 21(10): 1832–1840. Prepublished online 2013 Jul 2. Published online 2013 Jul 30. doi: 10.1038/mt.2013.156
PMCID:
PMC3808132
AbstractArticlePDF–1.1M
19.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
20.
Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan
Atsushi Kuga, Motoi Kanagawa, Atsushi Sudo, Yiumo Michael Chan, Michiko Tajiri, Hiroshi Manya, Yamato Kikkawa, Motoyoshi Nomizu, Kazuhiro Kobayashi, Tamao Endo, Qi L. Lu, Yoshinao Wada, Tatsushi Toda
J Biol Chem. 2012 Mar 16; 287(12): 9560–9567. Published online 2012 Jan 23. doi: 10.1074/jbc.M111.271767
PMCID:
PMC3308745
AbstractArticlePDF–1.9M

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