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33 results for FCMD+protein

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FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy
Author / Creator:Wood, A. J. ; Lin, C. H. ; Li, M. ; Nishtala, K. ; Alaei, S. ; Rossello, F. ; Sonntag, C. ; Hersey, L. ; Miles, L. B. ; Krisp, C. ; Dudczig, S. ; Fulcher, A. J. ; Gibertini, S. ; Conroy, P. J. ; Siegel, A. ; Mora, M. ; Jusuf, P. ; Packer, N. H. ; Currie, P. D.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-05, Vol.12 (1), p.2951-2951, Article 2951
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Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice
Author / Creator:Cataldi, Marcela P. ; Lu, Peijuan ; Blaeser, Anthony ; Lu, Qi Long
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-08, Vol.9 (1), p.3448-12, Article 3448
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Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study
Author / Creator:Willis, Tracey A. ; Hollingsworth, Kieren G. ; Coombs, Anna ; Sveen, Marie-Louise ; Andersen, Søren ; Stojkovic, Tanya ; Eagle, Michelle ; Mayhew, Anna ; de Sousa, Paulo L. ; Dewar, Liz ; Morrow, Jasper M. ; Sinclair, Christopher D. J. ; Thornton, John S. ; Bushby, Kate ; Lochmüller, Hanns ; Hanna, Michael G. ; Hogrel, Jean-Yves ; Carlier, Pierre G. ; Vissing, John ; Straub, Volker
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e70993-e70993
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Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy
Author / Creator:Kuwabara, Naoyuki ; Imae, Rieko ; Manya, Hiroshi ; Tanaka, Tomohiro ; Mizuno, Mamoru ; Tsumoto, Hiroki ; Kanagawa, Motoi ; Kobayashi, Kazuhiro ; Toda, Tatsushi ; Senda, Toshiya ; Endo, Tamao ; Kato, Ryuichi
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-01, Vol.11 (1), p.303-303, Article 303
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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
Author / Creator:van Tol, Walinka ; van Scherpenzeel, Monique ; Alsady, Mohammad ; Riemersma, Moniek ; Hermans, Esther ; Kragt, Else ; Tasca, Giorgio ; Kamsteeg, Erik-Jan ; Pennings, Maartje ; van Beusekom, Ellen ; Vermeulen, Jeroen R ; van Bokhoven, Hans ; Voermans, Nicol C ; Willemsen, Michèl A ; Ashikov, Angel ; Lefeber, Dirk J
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2019-10, Vol.65 (10), p.1295-1306
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Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study
Author / Creator:Willis, Tracey A. ; Hollingsworth, Kieren G. ; Coombs, Anna ; Sveen, Marie-Louise ; Andersen, Soren ; Stojkovic, Tanya ; Eagle, Michelle ; Mayhew, Anna ; de Sousa, Paulo Loureiro ; Dewar, Liz ; Morrow, Jasper M. ; Sinclair, Christopher D. J. ; Thornton, John S. ; Bushby, Kate ; Lochmuller, Hanns ; Hanna, Michael G. ; Hogrel, Jean-Yves ; Carlier, Pierre G. ; Vissing, John ; Straub, Volker
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-02, Vol.9 (2), p.e90377-e90377
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Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure
Author / Creator:Ujihara, Yoshihiro ; Kanagawa, Motoi ; Mohri, Satoshi ; Takatsu, Satomi ; Kobayashi, Kazuhiro ; Toda, Tatsushi ; Naruse, Keiji ; Katanosaka, Yuki
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-12, Vol.10 (1), p.5754-17, Article 5754
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Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy
Author / Creator:Morioka, Shigefumi ; Sakaguchi, Hirofumi ; Mohri, Hiroaki ; Taniguchi-Ikeda, Mariko ; Kanagawa, Motoi ; Suzuki, Toshiaki ; Miyagoe-Suzuki, Yuko ; Toda, Tatsushi ; Saito, Naoaki ; Ueyama, Takehiko
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-05, Vol.16 (5), p.e1008826-e1008826
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Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort
Author / Creator:Alhammad, Reem M. ; Alrehaili, Marwa L. ; Albulaihe, Hana M. ; Aljereish, Sultan S. ; Alanazy, Mohammed H.
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2024-09, Vol.24 (1), p.312-9, Article 312
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NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes
Author / Creator:Ortiz-Cordero, Carolina ; Magli, Alessandro ; Dhoke, Neha R ; Kuebler, Taylor ; Selvaraj, Sridhar ; Oliveira, Nelio AJ ; Zhou, Haowen ; Sham, Yuk Y ; Bang, Anne G ; Perlingeiro, Rita CR
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2021-01, Vol.10
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CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy
Author / Creator:Geoffroy, Marine ; Pili, Louna ; Buffa, Valentina ; Caroff, Maëlle ; Bigot, Anne ; Gicquel, Evelyne ; Rouby, Grégory ; Richard, Isabelle ; Fragnoud, Romain
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-10, Vol.12 (20), p.2444
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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Author / Creator:Willis, Erin ; Moore, Steven A. ; Cox, Mary O. ; Stefans, Vikki ; Aravindhan, Akilandeswari ; Gokden, Murat ; Veerapandiyan, Aravindhan
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Child neurology open, 2022-01, Vol.9, p.2329048X221097518
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Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice
Author / Creator:Blaeser, Anthony ; Awano, Hiroyuki ; Wu, Bo ; Lu, Qi-Long
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-10, Vol.11 (10), p.e0164187-e0164187
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Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice
Author / Creator:Vannoy, Charles Harvey ; Leroy, Victoria ; Lu, Qi Long
Publisher:United States: Elsevier Limited
Journal title:Molecular therapy. Methods & clinical development, 2018-12, Vol.11, p.106-120
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Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i
Author / Creator:Maricelli, Joseph W. ; Lu, Qi L. ; Lin, David C. ; Rodgers, Buel D.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-09, Vol.11 (9), p.e0161984-e0161984
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Alterations of GABAergic Neuron-Associated Extracellular Matrix and Synaptic Responses in Gad1-Heterozygous Mice Subjected to Prenatal Stress
Author / Creator:Wang, Tianying ; Sinha, Adya Saran ; Akita, Tenpei ; Yanagawa, Yuchio ; Fukuda, Atsuo
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2018-09, Vol.12, p.284-284
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Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene
Author / Creator:Vannoy, Charles Harvey ; Xiao, Will ; Lu, Peijuan ; Xiao, Xiao ; Lu, Qi Long
Publisher:United States: Elsevier Limited
Journal title:Molecular therapy. Methods & clinical development, 2017-06, Vol.5 (C), p.31-42
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Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I
Author / Creator:Azzag, Karim ; Ortiz-Cordero, Carolina ; Oliveira, Nelio A. J. ; Magli, Alessandro ; Selvaraj, Sridhar ; Tungtur, Sudheer ; Upchurch, Weston ; Iaizzo, Paul A. ; Lu, Qi Long ; Perlingeiro, Rita C. R.
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2020-04, Vol.10 (1), p.10-10, Article 10
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Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan
Author / Creator:Kobayashi, Kazuhiro ; Kato, Reiko ; Kondo-Iida, Eri ; Taniguchi-Ikeda, Mariko ; Osawa, Makiko ; Saito, Kayoko ; Toda, Tatsushi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-11, Vol.62 (11), p.945-948
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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
Author / Creator:Wang, Zhaoxia ; Zheng, Yiming ; Xiao, Jiangxi ; Xie, Zhiying ; Yuan, Yun
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:BioMed research international, 2018-01, Vol.2018 (2018), p.1-10
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Showing 1 to 20 of 33 results

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

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Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice

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Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

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

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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy

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Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study

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Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure

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Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

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Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort

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NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes

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CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

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Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice

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Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice

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Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i

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Alterations of GABAergic Neuron-Associated Extracellular Matrix and Synaptic Responses in Gad1-Heterozygous Mice Subjected to Prenatal Stress

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Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene

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Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I

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Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

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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

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