Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
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Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyTrendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2iEfficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP GeneAdeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophyG-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivoPost-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Nuclear envelope in nuclear positioning and cell migrationAbsence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.Developmental expression of the neuron-specific N-acetylglucosaminyltransferase Vb (GnT-Vb/IX) and identification of its in vivo glycan products in comparison with those of its paralog, GnT-VAnimal models of muscular dystrophyFour-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathyProspect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsDevelopmental disorders of the midbrain and hindbrain.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.What do mouse models of muscular dystrophy tell us about the DAPC and its components?AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I.Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.Mouse models of human ocular disease for translational research.Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i.Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i.Dystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development.Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice.Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.Expression of glycosylated α-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice.A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA.Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USARibitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant miceDose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice
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P2860
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@en
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@nl
type
label
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@en
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@nl
prefLabel
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@en
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@nl
P2093
P2860
P356
P1476
Fukutin-related protein is ess ...... trums of dystroglycanopathies.
@en
P2093
Derek J Blake
Elizabeth Keramaris-Vrantsis
Hart G Lidov
Helen E Gruber
James H Norton
Jeffrey Rosenfeld
Jignya Ashar
Natalia Zinchenko
Randy Thresher
P2860
P304
P356
10.1093/HMG/DDQ314
P577
2010-07-30T00:00:00Z