| Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation. | Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Lu QL, Holbrook MC, Cataldi MP, Blaeser A., Free PMC Article | 03/13/2024 |
| Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. | Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Jensen SM, Friborg O, Mellgren SI, Müller KI, Bergvik S, Arntzen KA., Free PMC Article | 01/11/2024 |
| Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). | Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Jensen S, Abeler K, Friborg O, Rosner A, Olsborg C, Mellgren SI, Müller KI, Rosenberger AD, Vold ML, Arntzen KA., Free PMC Article | 01/11/2024 |
| Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. | Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G, Polavarapu K, Bardhan M, Nashi S, Vengalil S, Preethish-Kumar V, Valasani RK, Huddar A, Nishadham V, Nandeesh BN, Nalini A., Free PMC Article | 07/13/2023 |
| Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies. | Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
Ortiz-Cordero C, Bincoletto C, Dhoke NR, Selvaraj S, Magli A, Zhou H, Kim DH, Bang AG, Perlingeiro RCR., Free PMC Article | 03/19/2022 |
| Fukutin-Related Protein: From Pathology to Treatments. | Fukutin-Related Protein: From Pathology to Treatments.
Ortiz-Cordero C, Azzag K, Perlingeiro RCR., Free PMC Article | 12/18/2021 |
| FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. | FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Awano H, Saito Y, Shimizu M, Sekiguchi K, Niijima S, Matsuo M, Maegaki Y, Izumi I, Kikuchi C, Ishibashi M, Okazaki T, Komaki H, Iijima K, Nishino I. | 12/11/2021 |
| [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].", trans "La dystrophie musculaire des ceintures de type R9 liee au gene FKRP - Etat des lieux et perspectives therapeutiques. | [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].
Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T. | 10/30/2021 |
| The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. | The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M, Naseri M, Ghandil P, Bahrami A, Momen AA. | 09/4/2021 |
| FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. | FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Wood AJ, Lin CH, Li M, Nishtala K, Alaei S, Rossello F, Sonntag C, Hersey L, Miles LB, Krisp C, Dudczig S, Fulcher AJ, Gibertini S, Conroy PJ, Siegel A, Mora M, Jusuf P, Packer NH, Currie PD., Free PMC Article | 06/5/2021 |
| Phenotypic Spectrum of alpha-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. | Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Brown SC, Fernandez-Fuente M, Muntoni F, Vissing J. | 05/15/2021 |
| Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. | Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V., Free PMC Article | 04/24/2021 |
| Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. | Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, Mathews KD., Free PMC Article | 01/9/2021 |
| Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up. | Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Gedlinske AM, Stephan CM, Mockler SRH, Laubscher KM, Laubenthal KS, Crockett CD, Zimmerman MB, Mathews KD., Free PMC Article | 12/5/2020 |
| Fukutin and fukutin-related protein (FKRP), whose mutated genes underlie dystroglycanopathy, sequentially transfer RboP from cytidine diphosphate-ribitol (CDP-Rbo) to form a tandem RboP unit in the core M3 glycan. Crystal structures of FKRP with and without donor (CDP-Rbo) and/or acceptor [RboP-(phospho-)core M3 peptide] substrates. | Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.
Kuwabara N, Imae R, Manya H, Tanaka T, Mizuno M, Tsumoto H, Kanagawa M, Kobayashi K, Toda T, Senda T, Endo T, Kato R., Free PMC Article | 04/11/2020 |
| Cardiomyopathy is expected in nearly 50% of LGMD2I (LGMD-R9) patients, however we report for first time two Mexican LGMD2I siblings that died due to dilated cardiomyopathy associated to compound heterozygous genotype involving the Hispanic/Mexican pathogenic and founder FKRP allele p.[Asn463Asp] and the common European p[Leu276Ile] variant. | 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.
Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M., Free PMC Article | 11/27/2019 |
| c.1303C>T mutation from FKRP came from the father and was a new missense mutation, and a bioinformatics analysis showed that it might be a pathogenic mutation | [Clinical features and FKRP mutations of congenital muscular dystrophy 1C].
Hong XW, Chen YH., Free PMC Article | 04/13/2019 |
| Muscle tissue in patients with Limb girdle muscular dystrophy type 2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI. | 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.
Xie Z, Xiao J, Zheng Y, Wang Z, Yuan Y., Free PMC Article | 01/12/2019 |
| The FKRP-related disorders should be included as a differential diagnosis in Mexican patients with neuromuscular disorders and normal results on DMD gene deletion/duplication analysis. This and previous reports, along with data from the main genotype databases, collectively suggest that in Mexico the FKRP-related disorders are due to the p.(Asn463Asp) and the common European p.(Leu276Ile) pathogenic variants. | Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases.
Navarro-Cobos MJ, González-Del Angel A, Estandia-Ortega B, Ruiz-Herrera A, Becerra A, Vargas-Ramírez G, Bermúdez-López C, Alcántara-Ortigoza MA. | 11/28/2018 |
| The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.
Haro C, Uribe ML, Quereda C, Cruces J, Martín-Nieto J., Free PMC Article | 11/17/2018 |
| This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous. | Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
Wang DN, Wang ZQ, Chen YQ, Xu GR, Lin MT, Wang N. | 07/28/2018 |
| Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg | Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
Yoshioka M, Kobayashi K, Toda T. | 05/26/2018 |
| Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, Kanagawa M, Endo T, Toda T. | 04/14/2018 |
| This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion. | Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.
Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen Ø. | 03/17/2018 |
| Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice | Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.
Blaeser A, Awano H, Wu B, Lu QL., Free PMC Article | 07/1/2017 |