| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/DDQ314 |
| P953 | full work available at URL | http://academic.oup.com/hmg/article-pdf/19/20/3995/13911041/ddq314.pdf |
| http://hmg.oxfordjournals.org/cgi/content/abstract/19/20/3995 | ||
| https://academic.oup.com/hmg/article-pdf/19/20/3995/13911041/ddq314.pdf | ||
| P698 | PubMed publication ID | 20675713 |
| P5875 | ResearchGate publication ID | 45440581 |
| P2093 | author name string | Jeffrey Rosenfeld | |
| Derek J. Blake | |||
| Natalia Zinchenko | |||
| Yiumo Michael Chan | |||
| Randy Thresher | |||
| Elizabeth Keramaris-Vrantsis | |||
| Jignya Ashar | |||
| Helen E. Gruber | |||
| Hart G. Lidov | |||
| James H. Norton | |||
| Qi L. Lu | |||
| P2860 | cites work | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 |
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| 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 | Q24535942 | ||
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| Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. | Q42524154 | ||
| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. | Q43073716 | ||
| Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders | Q44159158 | ||
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| Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. | Q47676170 | ||
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| Phenotypic spectrum associated with mutations in the fukutin-related protein gene | Q48350456 | ||
| High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. | Q50543585 | ||
| Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. | Q54498102 | ||
| Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle | Q59089242 | ||
| Electron microscopic evidence for a mucin-like region in chick muscle alpha-dystroglycan | Q71889901 | ||
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
| Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy | Q81679894 | ||
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 | ||
| A stoichiometric complex of neurexins and dystroglycan in brain | Q26269938 | ||
| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan | Q28206027 | ||
| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study | Q28238656 | ||
| Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor | Q28254849 | ||
| Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies | Q28256756 | ||
| Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan | Q28265678 | ||
| Molecular recognition by LARGE is essential for expression of functional dystroglycan | Q28267964 | ||
| Glycoprotein complex anchoring dystrophin to sarcolemma | Q28292439 | ||
| Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix | Q28296676 | ||
| Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations | Q28297242 | ||
| Functional requirements for fukutin-related protein in the Golgi apparatus | Q28505367 | ||
| Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation | Q28507319 | ||
| Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization | Q28508732 | ||
| A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis | Q28511015 | ||
| Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality | Q28512333 | ||
| Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice | Q28590908 | ||
| A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1) | Q28593129 | ||
| Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development | Q29030628 | ||
| Membrane organization of the dystrophin-glycoprotein complex | Q29615149 | ||
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | Q33391488 | ||
| Conditional control of gene expression in the mouse | Q34389488 | ||
| Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding | Q34405965 | ||
| Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation | Q34746653 | ||
| A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. | Q36232550 | ||
| alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability. | Q36256527 | ||
| The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis | Q36592193 | ||
| Congenital muscular dystrophies involving the O-mannose pathway | Q36855555 | ||
| Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression | Q36995702 | ||
| Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast | Q37270980 | ||
| Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies | Q38584853 | ||
| Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo | Q40122746 | ||
| A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice | Q41823092 | ||
| Expression of alpha7beta1 integrin splicing variants during skeletal muscle regeneration. | Q41907998 | ||
| Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins | Q42001102 | ||
| Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. | Q42447132 | ||
| P433 | issue | 20 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | myogenesis | Q3331437 |
| animal muscular dystrophy | Q55227321 | ||
| P304 | page(s) | 3995-4006 | |
| P577 | publication date | 2010-07-30 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies | |
| P478 | volume | 19 |
| Q50911860 | A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. |
| Q38882219 | AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. |
| Q35841883 | Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan |
| Q37254859 | Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions |
| Q34013566 | Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein |
| Q36915922 | Animal models of muscular dystrophy |
| Q39453819 | B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. |
| Q34149744 | Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy |
| Q37992627 | Developmental disorders of the midbrain and hindbrain |
| Q36217346 | 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 |
| Q48269884 | Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice. |
| Q58738089 | Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice |
| Q48007014 | Dystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development |
| Q33633266 | Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene |
| Q93160656 | Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I |
| Q49685437 | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes |
| Q50492920 | Expression of glycosylated α-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice. |
| Q36960788 | Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy |
| Q48911848 | Fukutin-related protein alters the deposition of laminin in the eye and brain |
| Q34376127 | 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 |
| Q92983025 | ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice |
| Q54957953 | Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. |
| Q91809789 | Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement After Gene Replacement Therapy |
| Q38091854 | Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. |
| Q24611333 | Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy |
| Q51065374 | Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. |
| Q41577738 | Mouse models of human ocular disease for translational research |
| Q40610977 | Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery |
| Q35028009 | Nuclear envelope in nuclear positioning and cell migration |
| Q55440689 | Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. |
| Q44419465 | Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report |
| Q34756344 | Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected] |
| Q36155320 | Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice |
| Q37021623 | Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy |
| Q58701413 | Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice |
| Q53154898 | Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA. |
| Q47714263 | Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i. |
| Q47874181 | Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i. |
| Q52602020 | Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy. |
| Q60300741 | The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy |
| Q57562533 | Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA |
| Q27324284 | Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i |
| Q38255744 | What do mouse models of muscular dystrophy tell us about the DAPC and its components? |
| Q55498170 | Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. |
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