Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. - Wikidata - awgldk - TriplyDB

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

http://www.wikidata.org/entity/Q48104215

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Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene Adeno-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 dystrophy G-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 vivo Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Nuclear envelope in nuclear positioning and cell migration Absence 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-V Animal models of muscular dystrophy Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy Prospect 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 functions Developmental 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, USA Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice

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Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

http://www.wikidata.org/entity/Q48104215

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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2010年學術文章

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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

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Human Molecular Genetics

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Fukutin-related protein is ess ...... trums of dystroglycanopathies.

@en

P2093

Derek J Blake

http://www.w3.org/2001/XMLSchema#string

Elizabeth Keramaris-Vrantsis

http://www.w3.org/2001/XMLSchema#string

Hart G Lidov

http://www.w3.org/2001/XMLSchema#string

Helen E Gruber

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James H Norton

http://www.w3.org/2001/XMLSchema#string

Jeffrey Rosenfeld

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Jignya Ashar

http://www.w3.org/2001/XMLSchema#string

Natalia Zinchenko

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Qi L Lu

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Randy Thresher

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P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

Mutations alter secretion of fukutin-related protein

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Visual impairment in the absence of dystroglycan

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

A stoichiometric complex of neurexins and dystroglycan in brain

P304

3995-4006

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scholarly article

P356

10.1093/HMG/DDQ314

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P433

20

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P478

19

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2010-07-30T00:00:00Z

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45440581

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20675713

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