Published in Biochem Biophys Res Commun on October 02, 2006
Muscular dystrophies due to glycosylation defects. Neurotherapeutics (2008) 1.51
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet (2008) 1.10
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest (2012) 1.08
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife (2014) 0.98
Dystroglycan glycosylation and muscular dystrophy. Glycoconj J (2008) 0.97
Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol (2007) 0.94
Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates. Biochemistry (2014) 0.92
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan. J Biol Chem (2012) 0.91
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet (2011) 0.91
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. Biochem J (2011) 0.88
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem (2012) 0.83
Dystroglycan glycosylation and its role in alpha-dystroglycanopathies. Acta Myol (2007) 0.81
Golgi UDP-GlcNAc:polypeptide O-α-N-Acetyl-d-glucosaminyltransferase 2 (TcOGNT2) regulates trypomastigote production and function in Trypanosoma cruzi. Eukaryot Cell (2014) 0.77
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. Mol Genet Genomics (2013) 0.77
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. Proc Natl Acad Sci U S A (2016) 0.75
Congenital protein hypoglycosylation diseases. Appl Clin Genet (2012) 0.75
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. Mol Vis (2016) 0.75
Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex. Anat Rec (Hoboken) (2014) 0.75
Post-transcriptional regulation of fukutin in an astrocytoma cell line. Int J Exp Pathol (2012) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Diet-induced insulin resistance in mice lacking adiponectin/ACRP30. Nat Med (2002) 8.95
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11
The role of Scgb1a1+ Clara cells in the long-term maintenance and repair of lung airway, but not alveolar, epithelium. Cell Stem Cell (2009) 6.44
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med (2003) 4.03
MicroRNA-mediated control of oligodendrocyte differentiation. Neuron (2010) 3.24
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A (2003) 2.94
SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site. Dev Cell (2004) 2.74
Neurotrophins and netrins require calcineurin/NFAT signaling to stimulate outgrowth of embryonic axons. Cell (2003) 2.54
Deletion of PIK3C3/Vps34 in sensory neurons causes rapid neurodegeneration by disrupting the endosomal but not the autophagic pathway. Proc Natl Acad Sci U S A (2010) 2.53
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci (2008) 2.35
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
A toxic monomeric conformer of the polyglutamine protein. Nat Struct Mol Biol (2007) 2.33
Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness. Cell Stem Cell (2013) 2.32
The calcium-activated chloride channel anoctamin 1 acts as a heat sensor in nociceptive neurons. Nat Neurosci (2012) 2.28
Association between the various mutations in viral core promoter region to different stages of hepatitis B, ranging of asymptomatic carrier state to hepatocellular carcinoma. Am J Gastroenterol (2010) 2.20
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding. J Virol (2005) 2.17
Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. Hum Mol Genet (2004) 2.10
Mesothelium contributes to vascular smooth muscle and mesenchyme during lung development. Proc Natl Acad Sci U S A (2008) 2.08
Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol (2009) 2.00
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96
Unc-51-like kinase 1/2-mediated endocytic processes regulate filopodia extension and branching of sensory axons. Proc Natl Acad Sci U S A (2007) 1.95
RIM1 confers sustained activity and neurotransmitter vesicle anchoring to presynaptic Ca2+ channels. Nat Neurosci (2007) 1.95
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. J Biol Chem (2008) 1.88
Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol (2002) 1.87
Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet (2006) 1.83
Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol (2004) 1.72
Distinct Nav1.7-dependent pain sensations require different sets of sensory and sympathetic neurons. Nat Commun (2012) 1.72
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet (2003) 1.71
(68)Ga-labeled cyclic RGD dimers with Gly3 and PEG4 linkers: promising agents for tumor integrin alphavbeta3 PET imaging. Eur J Nucl Med Mol Imaging (2009) 1.69
Heat shock transcription factor 1-activating compounds suppress polyglutamine-induced neurodegeneration through induction of multiple molecular chaperones. J Biol Chem (2008) 1.69
Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem (2004) 1.68
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat Genet (2003) 1.68
A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
Analyzing somatosensory axon projections with the sensory neuron-specific Advillin gene. J Neurosci (2007) 1.67
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol (2006) 1.66
Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic. Hum Mol Genet (2007) 1.66
Deletion of angiotensin-converting enzyme 2 accelerates pressure overload-induced cardiac dysfunction by increasing local angiotensin II. Hypertension (2006) 1.61
Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci U S A (2011) 1.60
Protein transduction domain-mediated delivery of QBP1 suppresses polyglutamine-induced neurodegeneration in vivo. Mol Ther (2007) 1.55
UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol (2004) 1.54
The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet (2006) 1.53
A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock. Am J Respir Crit Care Med (2014) 1.53
Mammalian target of rapamycin (mTOR) activation increases axonal growth capacity of injured peripheral nerves. J Biol Chem (2010) 1.52
Delivery of the aggregate inhibitor peptide QBP1 into the mouse brain using PTDs and its therapeutic effect on polyglutamine disease mice. Neurosci Lett (2008) 1.50
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A (2009) 1.47
N-myc alters the fate of preneoplastic cells in a mouse model of medulloblastoma. Genes Dev (2009) 1.45
Candidate pathway-based genome-wide association studies identify novel associations of genomic variants in the complement system associated with coronary artery disease. Circ Cardiovasc Genet (2014) 1.45
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45
Functional genomics analysis of Singapore grouper iridovirus: complete sequence determination and proteomic analysis. J Virol (2004) 1.44
Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci (2003) 1.44
Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell (2007) 1.43
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest (2002) 1.41
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature (2011) 1.41
Improving tumor-targeting capability and pharmacokinetics of (99m)Tc-labeled cyclic RGD dimers with PEG(4) linkers. Mol Pharm (2009) 1.41
Do gluons carry half of the nucleon momentum? Phys Rev Lett (2009) 1.39
Evaluation of a (99m)Tc-labeled cyclic RGD tetramer for noninvasive imaging integrin alpha(v)beta3-positive breast cancer. Bioconjug Chem (2007) 1.39
Spin and orbital angular momentum in gauge theories: nucleon spin structure and multipole radiation revisited. Phys Rev Lett (2008) 1.39
Extraordinary photoluminescence and strong temperature/angle-dependent Raman responses in few-layer phosphorene. ACS Nano (2014) 1.38
Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein. Nat Biotechnol (2010) 1.38
Experimental hyperhomocysteinemia impairs coronary flow velocity reserve. Int J Cardiol (2005) 1.38
Noninvasive imaging of tumor integrin expression using (18)F-labeled RGD dimer peptide with PEG (4) linkers. Eur J Nucl Med Mol Imaging (2009) 1.35
Retrograde BMP signaling regulates trigeminal sensory neuron identities and the formation of precise face maps. Neuron (2007) 1.34
Human health risk assessment of heavy metals in soil-vegetable system: a multi-medium analysis. Sci Total Environ (2013) 1.33
Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells. Cancer Res (2004) 1.33
Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection. Proc Natl Acad Sci U S A (2011) 1.32
Does physical activity reduce the risk of prostate cancer? A systematic review and meta-analysis. Eur Urol (2011) 1.31
Sphingosine 1-phosphate (S1P) regulates vascular contraction via S1P3 receptor: investigation based on a new S1P3 receptor antagonist. Mol Pharmacol (2010) 1.30
New strategies to deliver anticancer drugs to brain tumors. Expert Opin Drug Deliv (2009) 1.29
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Commun (2003) 1.29
Small-animal PET of tumors with (64)Cu-labeled RGD-bombesin heterodimer. J Nucl Med (2009) 1.29
(68)Ga-labeled NOTA-RGD-BBN peptide for dual integrin and GRPR-targeted tumor imaging. Eur J Nucl Med Mol Imaging (2009) 1.28
Regulation of mammalian autophagy by class II and III PI 3-kinases through PI3P synthesis. PLoS One (2013) 1.28
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet (2014) 1.27
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum Mol Genet (2003) 1.27