相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Detection of the KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma
Shinji Yamashita et al.
PLOS ONE (2019)
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy
Marcos Rubio-Fernandez et al.
SCIENTIFIC REPORTS (2018)
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa
Suzanne E. de Bruijn et al.
JOURNAL OF MEDICAL GENETICS (2018)
Transsynaptic Binding of Orphan Receptor GPR179 to Dystroglycan-Pikachurin Complex Is Essential for the Synaptic Organization of Photoreceptors
Cesare Orlandi et al.
CELL REPORTS (2018)
Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2
Ida Signe Bohse Larsen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins
Ida Signe Bohse Larsen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
2016 update of the PRIDE database and its related tools
Juan Antonio Vizcaino et al.
NUCLEIC ACIDS RESEARCH (2016)
Alterations to retinal architecture prior to photoreceptor loss in a mouse model of retinitis pigmentosa
Sarah L. Roche et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY (2016)
Glycobiology of α-dystroglycan and muscular dystrophy
Tamao Endo
JOURNAL OF BIOCHEMISTRY (2015)
Differential Expression of IL-6/gp130 Cytokines, Jak-STAT Signaling and Neuroprotection After Muller Cell Ablation in a Transgenic Mouse Model
Nathan J. Coorey et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
STAT3 promotes survival of mutant photoreceptors in inherited photoreceptor degeneration models
Ke Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Bardet-Biedl syndrome
Elizabeth Forsythe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
The Human Leukocyte Antigen-presented Ligandome of B Lymphocytes
Chopie Hassan et al.
MOLECULAR & CELLULAR PROTEOMICS (2013)
Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins
Malene B. Vester-Christensen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
O-Mannose and O-N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner
Alejandro Gomez Toledo et al.
GLYCOBIOLOGY (2012)
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy
Aaron M. Beedle et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Presynaptic Dystroglycan-Pikachurin Complex Regulates the Proper Synaptic Connection between Retinal Photoreceptor and Bipolar Cells
Yoshihiro Omori et al.
JOURNAL OF NEUROSCIENCE (2012)
RPTPζ/PHOSPHACAN IS ABNORMALLY GLYCOSYLATED IN A MODEL OF MUSCLE-EYE-BRAIN DISEASE LACKING FUNCTIONAL POMGNT1
C. A. Dwyer et al.
NEUROSCIENCE (2012)
Novel roles for α-crystallins in retinal function and disease
Ram Kannan et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2012)
Differential Gene Expression in Eyecup and Retina of a Mouse Model of Stargardt-like Macular Dystrophy (STGD3)
Sharee Kuny et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2
Keiko Akasaka-Manya et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Dystroglycanopathies: coming into focus
Caroline Godfrey et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding
Takako Yoshida-Moriguchi et al.
SCIENCE (2010)
Visual Impairment in the Absence of Dystroglycan
Jakob S. Satz et al.
JOURNAL OF NEUROSCIENCE (2009)
Multiplex peptide stable isotope dimethyl labeling for quantitative proteomics
Paul J. Boersema et al.
NATURE PROTOCOLS (2009)
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation
Shigeru Sato et al.
NATURE NEUROSCIENCE (2008)
Semi-supervised learning for peptide identification from shotgun proteomics datasets
Lukas Kall et al.
NATURE METHODS (2007)
Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Caroline Godfrey et al.
BRAIN (2007)
The expanding phenotype of POMT1 mutations:: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
J Van Reeuwijk et al.
HUMAN MUTATION (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: from biosynthesis to pathogenesis of human disease
R Barresi et al.
JOURNAL OF CELL SCIENCE (2006)
Ocular abnormalities in Largemyd and Largevls mice, spontaneous models for muscle, eye, and brain diseases
Y Lee et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
Time course of neurotrophic factor upregulation and retinal protection against light-induced damage after optic nerve section
K Valter et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
B Balci et al.
NEUROMUSCULAR DISORDERS (2005)
Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1
S Hüttl et al.
JOURNAL OF NEUROSCIENCE (2005)
Defective glycosylation in congenital muscular dystrophies
F Muntoni et al.
CURRENT OPINION IN NEUROLOGY (2004)
Demonstration of mammalian protein O-mannosyltransferase activity:: Coexpression of POMT1 and POMT2 required for enzymatic activity
H Manya et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Photoreceptor degeneration and loss of retinal function in the C57BL/6-C2J mouse
A Bravo-Nuevo et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development
A Nishida et al.
NATURE NEUROSCIENCE (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)
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
B Cormand et al.
NEUROLOGY (2001)