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Select item 109774391.

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

Abstract Article PDF–627K

Select item 107893342.

Synnøve M. Jensen, Oddgeir Friborg, Svein Ivar Mellgren, Kai Ivar Müller, Svein Bergvik, Kjell Arne Arntzen

J Neuromuscul Dis. 2024; 11(1): 59–74. Prepublished online 2023 Oct 31. Published online 2024 Jan 2. doi: 10.3233/JND-221629

PMCID:: PMC10789334

Abstract Article PDF–465K

Select item 107701973.

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Synnøve Jensen, Karin Abeler, Oddgeir Friborg, Assami Rosner, Caroline Olsborg, Svein Ivar Mellgren, Kai Ivar Müller, Andreas Dybesland Rosenberger, Monica L. Vold, Kjell Arne Arntzen

J Neurol. 2024; 271(1): 274–288. Published online 2023 Sep 11. doi: 10.1007/s00415-023-11978-7

PMCID:: PMC10770197

Abstract Article PDF–736K

Select item 103571424.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 615–626. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-221618

PMCID:: PMC10357142

Abstract Article PDF–750K

Select item 92316235.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 91063036.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 90588367.

The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside

Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang

J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009

PMCID:: PMC9058836

Abstract Article PDF–2.9M

Select item 86571968.

Carolina Ortiz-Cordero, Karim Azzag, Rita C.R. Perlingeiro

Trends Cell Biol. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Trends Cell Biol. 2021 Mar; 31(3): 197–210. Published online 2020 Dec 1. doi: 10.1016/j.tcb.2020.11.003

PMCID:: PMC8657196

Abstract Article PDF–1.6M

Select item 85810539.

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies

Carolina Ortiz-Cordero, Claudia Bincoletto, Neha R. Dhoke, Sridhar Selvaraj, Alessandro Magli, Haowen Zhou, Do-Hyung Kim, Anne G. Bang, Rita C.R. Perlingeiro

Stem Cell Reports. 2021 Nov 9; 16(11): 2752–2767. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.009

PMCID:: PMC8581053

Abstract Article PDF–6.7M

Select item 816503010.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 813442911.

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

A. J. Wood, C. H. Lin, M. Li, K. Nishtala, S. Alaei, F. Rossello, C. Sonntag, L. Hersey, L. B. Miles, C. Krisp, S. Dudczig, A. J. Fulcher, S. Gibertini, P. J. Conroy, A. Siegel, M. Mora, P. Jusuf, N. H. Packer, P. D. Currie

Nat Commun. 2021; 12: 2951. Published online 2021 May 19. doi: 10.1038/s41467-021-23217-6

PMCID:: PMC8134429

Abstract Article PDF–7.3M

Select item 771375312.

Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up

Amber M. Gedlinske, Carrie M. Stephan, Shelley R.H. Mockler, Katie M. Laubscher, Karla S. Laubenthal, Cameron D. Crockett, M. Bridget Zimmerman, Katherine D. Mathews

Neurology. 2020 Oct 13; 95(15): e2131–e2139. doi: 10.1212/WNL.0000000000010604

PMCID:: PMC7713753

Abstract Article PDF–353K

Select item 769323013.

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

Eric M. Libell, Julia A. Richardson, Katie L. Lutz, Benton Y. Ng, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, Bridget M. Zimmerman, Erik R. Edens, Benjamin E. Reinking, Katherine D. Mathews

Muscle Nerve. 2020 Nov; 62(5): 626–632. Published online 2020 Sep 10. doi: 10.1002/mus.27052

PMCID:: PMC7693230

Abstract Article PDF–1.1M

Select item 738917314.

先天性肌营养不良1C型1例临床特点和FKRP基因突变分析

洪晓文, 陈燕惠

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Sep 25; 20(9): 765–768. Chinese. doi: 10.7499/j.issn.1008-8830.2018.09.014

PMCID:: PMC7389173

Abstract Article PDF–1.4M

Select item 726176115.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub

Ann Clin Transl Neurol. 2020 May; 7(5): 757–766. Published online 2020 Apr 28. doi: 10.1002/acn3.51042

PMCID:: PMC7261761

Abstract Article PDF–586K

Select item 720679316.

LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling

Jin Huk Choi, Xue Zhong, William McAlpine, Tzu-Chieh Liao, Duanwu Zhang, Beibei Fang, Jamie Russell, Sara Ludwig, Evan Nair-Gill, Zhao Zhang, Kuan-wen Wang, Takuma Misawa, Xiaoming Zhan, Mihwa Choi, Tao Wang, Xiaohong Li, Miao Tang, Qihua Sun, Liyang Yu, Anne R. Murray, Eva Marie Y. Moresco, Bruce Beutler

Science. Author manuscript; available in PMC 2020 May 8.

Published in final edited form as: Science. 2019 May 10; 364(6440): eaau0812. doi: 10.1126/science.aau0812

PMCID:: PMC7206793

Abstract Article PDF–2.2M

Select item 696513917.

Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy

Naoyuki Kuwabara, Rieko Imae, Hiroshi Manya, Tomohiro Tanaka, Mamoru Mizuno, Hiroki Tsumoto, Motoi Kanagawa, Kazuhiro Kobayashi, Tatsushi Toda, Toshiya Senda, Tamao Endo, Ryuichi Kato

Nat Commun. 2020; 11: 303. Published online 2020 Jan 16. doi: 10.1038/s41467-019-14220-z

PMCID:: PMC6965139

Abstract Article PDF–1.7M

Select item 689591518.

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García

Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856

PMCID:: PMC6895915

Abstract Article PDF–783K

Select item 599647019.

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Zhiying Xie, Jiangxi Xiao, Yiming Zheng, Zhaoxia Wang, Yun Yuan

Biomed Res Int. 2018; 2018: 3710814. Published online 2018 May 29. doi: 10.1155/2018/3710814

PMCID:: PMC5996470

Abstract Article PDF–2.5M

Select item 578374320.

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto

Mol Vis. 2018; 24: 43–58. Published online 2018 Jan 20.

PMCID:: PMC5783743

Abstract Article PDF–27M

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