Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy
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Title
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy
Authors
Keywords
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Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 122, Issue 9, Pages 3330-3342
Publisher
American Society for Clinical Investigation
Online
2012-08-27
DOI
10.1172/jci63004
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Note: Only part of the references are listed.- Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan
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- Dystroglycanopathies: coming into focus
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- Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
- (2011) Mariko Taniguchi-Ikeda et al. NATURE
- Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
- (2010) Yiumo Michael Chan et al. HUMAN MOLECULAR GENETICS
- Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development
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- Distinct Functions of Glial and Neuronal Dystroglycan in the Developing and Adult Mouse Brain
- (2010) J. S. Satz et al. JOURNAL OF NEUROSCIENCE
- Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies
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- O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding
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- Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
- (2009) M. R. Ackroyd et al. BRAIN
- Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of -dystroglycan
- (2009) R. Han et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Direct observation of failing fibers in muscles of dystrophic mice provides mechanistic insight into muscular dystrophy
- (2008) Dennis R. Claflin et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Dystrophin deficiency in canine X-linked muscular dystrophy in Japan (CXMDJ) alters myosin heavy chain expression profiles in the diaphragm more markedly than in the tibialis cranialis muscle
- (2008) Katsutoshi Yuasa et al. BMC MUSCULOSKELETAL DISORDERS
- Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
- (2008) Paul Thornhill et al. BRAIN
- A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity
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- Brain and Eye Malformations Resembling Walker-Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast
- (2008) J. S. Satz et al. JOURNAL OF NEUROSCIENCE
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