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Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy
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Neuronal Dystroglycan Is Necessary for Formation and Maintenance of Functional CCK-Positive Basket Cell Terminals on Pyramidal Cells
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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
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BRAIN (2015)
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome
Marie Trkova et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome
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Prevalence of congenital muscular dystrophy in Italy A population study
Alessandra Graziano et al.
NEUROLOGY (2015)
Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy
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The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice
Charlotte Whitmore et al.
HUMAN MOLECULAR GENETICS (2014)
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HUMAN MOLECULAR GENETICS (2014)
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JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
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Anja von Renesse et al.
JOURNAL OF MEDICAL GENETICS (2014)
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JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2014)
Diagnostic approach to the congenital muscular dystrophies
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NEUROMUSCULAR DISORDERS (2014)
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Adeno-Associated Virus-Mediated Overexpression of LARGE Rescues α-Dystroglycan Function in Dystrophic Mice with Mutations in the Fukutin-Related Protein
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Keren J. Carss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Farid Radmanesh et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
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Ivette A. Martinez-Vieyra et al.
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HUMAN GENE THERAPY (2013)
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HUMAN MOLECULAR GENETICS (2013)
Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome
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HUMAN MOLECULAR GENETICS (2013)
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JOURNAL OF CELL BIOLOGY (2013)
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LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy
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Nuclear targeting of dystroglycan promotes the expression of androgen regulated transcription factors in prostate cancer
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AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan
Hirokazu Yagi et al.
SCIENTIFIC REPORTS (2013)
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Huy Nguyen et al.
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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
Sandrine Vuillaumier-Barrot et al.
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
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Dystroglycan promotes filopodial formation and process branching in differentiating oligodendroglia
Christopher Eyermann et al.
JOURNAL OF NEUROCHEMISTRY (2012)
Dystroglycan on Radial Glia End Feet Is Required for Pial Basement Membrane Integrity and Columnar Organization of the Developing Cerebral Cortex
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Presynaptic Dystroglycan-Pikachurin Complex Regulates the Proper Synaptic Connection between Retinal Photoreceptor and Bipolar Cells
Yoshihiro Omori et al.
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
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Laminin α1 is essential for mouse cerebellar development
Naoki Ichikawa-Tomikawa et al.
MATRIX BIOLOGY (2012)
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
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Dystroglycan Organizes Axon Guidance Cue Localization and Axonal Pathfinding
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Reelin Controls Neuronal Positioning by Promoting Cell-Matrix Adhesion via Inside-Out Activation of Integrin α5β1
Katsutoshi Sekine et al.
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A Nestin-cre transgenic mouse is insufficient for recombination in early embryonic neural progenitors
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BIOLOGY OPEN (2012)
New Dystrophin/Dystroglycan interactors control neuron behavior in Drosophila eye
April K. Marrone et al.
BMC NEUROSCIENCE (2011)
Dystroglycanopathies: coming into focus
Caroline Godfrey et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Evidence for a role of dystroglycan regulating the membrane architecture of astroglial endfeet
Susan Noell et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2011)
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies
Vandana Gupta et al.
HUMAN MOLECULAR GENETICS (2011)
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
Yung-Yao Lin et al.
HUMAN MOLECULAR GENETICS (2011)
Conditional Knockout of Protein O-mannosyltransferase 2 Reveals Tissue-Specific Roles of O-mannosyl Glycosylation in Brain Development
Huaiyu Hu et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2011)
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
A. Palmieri et al.
JOURNAL OF NEUROLOGY (2011)
Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain
Mark R. Ackroyd et al.
JOURNAL OF NEUROSCIENCE (2011)
Reactive gliosis of astrocytes and Mailer glial cells in retina of POMGnT1-deficient mice
Hisatomo Takahashi et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
Dystroglycan is involved in skin morphogenesis downstream of the Notch signaling pathway
Cathy Sirour et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression
Huaiyu Hu et al.
NEUROSCIENCE LETTERS (2011)
Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies
Jing Li et al.
NEUROSCIENCE LETTERS (2011)
BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Yuji Hara et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination
Rong Luo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Hyperthermic seizures and aberrant cellular homeostasis in Drosophila dystrophic muscles
April K. Marrone et al.
SCIENTIFIC REPORTS (2011)
Three-Dimensional Regulation of Radial Glial Functions by Lis1-Nde1 and Dystrophin Glycoprotein Complexes
Ashley S. Pawlisz et al.
PLOS BIOLOGY (2011)
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
Dirk J. Lefeber et al.
PLOS GENETICS (2011)
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
Gabriella Di Rosa et al.
EPILEPTIC DISORDERS (2011)
Dystroglycan versatility in cell adhesion: a tale of multiple motifs
Chris J. Moore et al.
CELL COMMUNICATION AND SIGNALING (2010)
Protein O-mannosylation is necessary for normal embryonic development in zebrafish
Eriko Avsar-Ban et al.
GLYCOBIOLOGY (2010)
Zebrafish models for human FKRP muscular dystrophies
Genri Kawahara et al.
HUMAN MOLECULAR GENETICS (2010)
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
Yiumo Michael Chan et al.
HUMAN MOLECULAR GENETICS (2010)
Post-translational Maturation of Dystroglycan Is Necessary for Pikachurin Binding and Ribbon Synaptic Localization
Motoi Kanagawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Distinct Functions of Glial and Neuronal Dystroglycan in the Developing and Adult Mouse Brain
Jakob S. Satz et al.
JOURNAL OF NEUROSCIENCE (2010)
Dystroglycan Modulates the Ability of Insulin-Like Growth Factor-1 To Promote Oligodendrocyte Differentiation
Jason Galvin et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2010)
MITOCHONDRIAL RESPIRATORY CHAIN AND CREATINE KINASE ACTIVITIES IN mdx MOUSE BRAIN
Lisiane Tuon et al.
MUSCLE & NERVE (2010)
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
Fatemeh Geranmayeh et al.
NEUROMUSCULAR DISORDERS (2010)
Dystroglycan and Mitochondrial Ribosomal Protein L34 Regulate Differentiation in the Drosophila Eye
Yougen Zhan et al.
PLOS ONE (2010)
O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding
Takako Yoshida-Moriguchi et al.
SCIENCE (2010)
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
Dirk J. Lefeber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
M. R. Ackroyd et al.
BRAIN (2009)
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity
Cecilia Jimenez-Mallebrera et al.
BRAIN PATHOLOGY (2009)
In vivo Analyzes of Dystroglycan Function During Somitogenesis in Xenopus laevis
Magdalena Hidalgo et al.
DEVELOPMENTAL DYNAMICS (2009)
Intracellular polarity protein PAR-1 regulates extracellular laminin assembly by regulating the dystroglycan complex
Maki Masuda-Hirata et al.
GENES TO CELLS (2009)
Visual Impairment in the Absence of Dystroglycan
Jakob S. Satz et al.
JOURNAL OF NEUROSCIENCE (2009)
CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE α-DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY
S. Messina et al.
NEUROLOGY (2009)
Congenital muscular dystrophies with defective glycosylation of dystroglycan A population study
E. Mercuri et al.
NEUROLOGY (2009)
Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice
Ruth Herbst et al.
NEUROMUSCULAR DISORDERS (2009)
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan
Renzhi Han et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Changes in Temperature Preferences and Energy Homeostasis in Dystroglycan Mutants
Ken-ichi Takeuchi et al.
SCIENCE (2009)
Brain Involvement in Muscular Dystrophies with Defective Dystroglycan Glycosylation
Emma Clement et al.
ANNALS OF NEUROLOGY (2008)
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
Paul Thornhill et al.
BRAIN (2008)
SEA domain proteolysis determines the functional composition of dystroglycan
Armin Akhavan et al.
FASEB JOURNAL (2008)
Kir4.1 and AQP4 associate with Dp71-and utrophin-DAPs complexes in specific and defined microdomains of Muller retinal glial and cell membrane
Patrice E. Fort et al.
GLIA (2008)
α6β4 integrin and dystroglycan cooperate to stabilize the myelin sheath
Alessandro Nodari et al.
JOURNAL OF NEUROSCIENCE (2008)
Brain and Eye Malformations Resembling Walker-Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast
Jakob S. Satz et al.
JOURNAL OF NEUROSCIENCE (2008)
GPR56 regulates pial basement membrane integrity and cortical lamination
Shihong Li et al.
JOURNAL OF NEUROSCIENCE (2008)
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation
Shigeru Sato et al.
NATURE NEUROSCIENCE (2008)
Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Largemyd mouse
Jennifer Rurak et al.
JOURNAL OF NEUROCHEMISTRY (2007)
Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Caroline Godfrey et al.
BRAIN (2007)
Morphological characterization of spinal cord dorsal horn lamina I neurons projecting to the parabrachial nucleus in the rat
L. Almarestani et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Cell type-specific tuning of hippocampal interneuron firing during gamma oscillations in vivo
John J. Tukker et al.
JOURNAL OF NEUROSCIENCE (2007)
Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS
Joern E. Schroeder et al.
DEVELOPMENTAL BIOLOGY (2007)
Defective peripheral nerve myelination and neuromuscular junction formation in fukutin-deficient chimeric mice
Fumiaki Saito et al.
JOURNAL OF NEUROCHEMISTRY (2007)
Identification of dystroglycan as a second laminin receptor in oligodendrocytes, with a role in myelination
Holly Colognato et al.
DEVELOPMENT (2007)
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease
Huaiyu Hu et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy
Halyna R. Shcherbata et al.
EMBO JOURNAL (2007)
Neural synchrony in brain disorders: Relevance for cognitive dysfunctions and pathophysiology
Peter J. Uhhaas et al.
NEURON (2006)
Meninges control tangential migration of hem-derived Cajal-Retzius cells via CXCL12/CXCR4 signaling
Victor Borrell et al.
NATURE NEUROSCIENCE (2006)
Perlecan and Dystroglycan act at the basal side of the Drosophila follicular epithelium to maintain epithelial organization
Martina Schneider et al.
DEVELOPMENT (2006)
Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain
Qiang Qu et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2006)
C. elegans dystroglycan DGN-1 functions in epithelia and neurons, but not muscle, and independently of dystrophin
RP Johnson et al.
DEVELOPMENT (2006)
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
JM Liu et al.
MECHANISMS OF DEVELOPMENT (2006)
Dystroglycan is required for proper retinal layering
A Lunardi et al.
DEVELOPMENTAL BIOLOGY (2006)
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk et al.
JOURNAL OF MEDICAL GENETICS (2005)
Ocular abnormalities in Largemyd and Largevls mice, spontaneous models for muscle, eye, and brain diseases
Y Lee et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
Dystroglycan and Kir4.1 coclustering in retinal Muller glia is regulated by laminin-1 and requires the PDZ-ligand domain of Kir4.1
G Noël et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Basement membrane fragility underlies embryonic lethality in fukutin-null mice
H Kurahashi et al.
NEUROBIOLOGY OF DISEASE (2005)
Laminin-sulfatide binding initiates basement membrane assembly and enables receptor signaling in Schwann cells and fibroblasts
SH Li et al.
JOURNAL OF CELL BIOLOGY (2005)
Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects
EN Levedakou et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development
E Pöschl et al.
DEVELOPMENT (2004)
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality
T Willer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Laminin-induced aggregation of the inwardly rectifying potassium channel, Kir4.1, and the water-permeable channel, AQP4, via a dystroglycan-containing complex in astrocytes
E Guadagno et al.
GLIA (2004)
LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
R Barresi et al.
NATURE MEDICINE (2004)
Molecular recognition by LARGE is essential for expression of functional dystroglycan
M Kanagawa et al.
CELL (2004)
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
S Takeda et al.
HUMAN MOLECULAR GENETICS (2003)
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization
F Saito et al.
NEURON (2003)
Inhibition of dystroglycan cleavage causes muscular dystrophy in transgenic mice
V Jayasinha et al.
NEUROMUSCULAR DISORDERS (2003)
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
C Longman et al.
HUMAN MOLECULAR GENETICS (2003)
Dystroglycan is required for polarizing the epithelial cells and the oocyte in Drosophila
WM Deng et al.
DEVELOPMENT (2003)
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
D Beltran-Valero de Bernabé et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders
PJ Holzfeind et al.
HUMAN MOLECULAR GENETICS (2002)
Disruption of Dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration
RD Cohn et al.
CELL (2002)
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
DE Michele et al.
NATURE (2002)
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
SA Moore et al.
NATURE (2002)
Matrix assembly, regulation, and survival functions of laminin and its receptors in embryonic stem cell differentiation
S Li et al.
JOURNAL OF CELL BIOLOGY (2002)
GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABAA receptors and gephyrin
I Brünig et al.
JOURNAL OF NEUROSCIENCE (2002)
Dystroglycan is selectively associated with inhibitory GABAergic synapses but is dispensable for their differentiation
S Lévi et al.
JOURNAL OF NEUROSCIENCE (2002)
Abnormalities in brain biochemistry associated with lack of dystrophin:: studies of the mdx mouse
C Rae et al.
NEUROMUSCULAR DISORDERS (2002)
Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice
E Arikawa-Hirasawa et al.
NATURE NEUROSCIENCE (2002)
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
M Brockington et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida et al.
DEVELOPMENTAL CELL (2001)
Dynamic predictions: Oscillations and synchrony in top-down processing
AK Engel et al.
NATURE REVIEWS NEUROSCIENCE (2001)
β1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex
D Graus-Porta et al.
NEURON (2001)
A stoichiometric complex of neurexins and dystroglycan in brain
S Sugita et al.
JOURNAL OF CELL BIOLOGY (2001)
Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
PK Grewal et al.
NATURE GENETICS (2001)
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
B Cormand et al.
NEUROLOGY (2001)
The dystroglycan complex is necessary for stabilization of acetylcholine receptor clusters at neuromuscular junctions and formation of the synaptic basement membrane
C Jacobson et al.
JOURNAL OF CELL BIOLOGY (2001)
Dystroglycan distribution in adult mouse brain: A light and electron microscopy study
ML Zaccaria et al.
NEUROSCIENCE (2001)
Structure of a WW domain containing fragment of dystrophin in complex with β-dystroglycan
X Huang et al.
NATURE STRUCTURAL BIOLOGY (2000)
Biosynthesis of dystroglycan: processing of a precursor propeptide
KH Holt et al.
FEBS LETTERS (2000)
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome
J Vajsar et al.
PEDIATRIC NEUROLOGY (2000)
Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle
A Leschziner et al.
JOURNAL OF NEUROCHEMISTRY (2000)
Expression of dystroglycan and laminin-2 in peripheral nerve under axonal degeneration and regeneration
T Masaki et al.
ACTA NEUROPATHOLOGICA (2000)
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