Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
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Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpressionMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyVisual impairment in the absence of dystroglycanFAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophiesTargeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethalityThe dystroglycanopathies: the new disorders of O-linked glycosylationLARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding.Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophyDifferential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferaseZebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesFukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophiesFE65 and FE65L1 amyloid precursor protein-binding protein compound null mice display adult-onset cataract and muscle weaknessMislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationPathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.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-VMechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development.Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.Congenital muscular dystrophies involving the O-mannose pathway.Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Muscular dystrophies due to defective glycosylation of dystroglycan.Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblastTherapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.Hippocampal pyramidal cells: the reemergence of cortical lamination.What do mouse models of muscular dystrophy tell us about the DAPC and its components?α6 integrin subunit regulates cerebellar development.The attachment disorders of muscle: failure to carb-loadDystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development.Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.Lens extrusion from Laminin alpha 1 mutant zebrafishImpairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.Retinal ganglion cell axon sorting at the optic chiasm requires dystroglycan
P2860
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P2860
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
description
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
article
@en
artículu científicu espublizáu en 2003
@ast
im Juni 2003 veröffentlichter wissenschaftlicher Artikel
@de
vedecký článok (publikovaný 2003/06/15)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/06/15)
@nl
наукова стаття, опублікована в червні 2003
@uk
مقالة علمية (نشرت في 15-6-2003)
@ar
name
Fukutin is required for mainte ...... sis and normal eye development
@ast
Fukutin is required for mainte ...... sis and normal eye development
@en
Fukutin is required for mainte ...... sis and normal eye development
@nl
type
label
Fukutin is required for mainte ...... sis and normal eye development
@ast
Fukutin is required for mainte ...... sis and normal eye development
@en
Fukutin is required for mainte ...... sis and normal eye development
@nl
prefLabel
Fukutin is required for mainte ...... sis and normal eye development
@ast
Fukutin is required for mainte ...... sis and normal eye development
@en
Fukutin is required for mainte ...... sis and normal eye development
@nl
P2093
P1476
Fukutin is required for mainte ...... sis and normal eye development
@en
P2093
Hiroki Kano
Hiroki Kurahashi
Junko Sasaki
Kazuhiro Kobayashi
Kazuyo Misaki
Kiichiro Matsumura
Mari Kondo
Masaji Tachikawa
Michihiro Imamura
P304
P407
P577
2003-06-15T00:00:00Z