Published in Brain Dev on March 21, 2007
The small GTPase Rheb affects central brain neuronal morphology and memory formation in Drosophila. PLoS One (2012) 0.81
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease. Mol Genet Metab (2012) 2.52
Complete genetic correction of ips cells from Duchenne muscular dystrophy. Mol Ther (2009) 1.74
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia. Circ J (2015) 1.55
Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta. Drug Metab Dispos (2004) 1.41
Electrophysiological properties of prion-positive cardiac progenitors derived from murine embryonic stem cells. Circ J (2012) 1.40
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome? Brain Dev (2007) 1.39
A highly stable and nonintegrated human artificial chromosome (HAC) containing the 2.4 Mb entire human dystrophin gene. Mol Ther (2008) 1.27
A method for producing transgenic cells using a multi-integrase system on a human artificial chromosome vector. PLoS One (2011) 1.26
Characterization of sequential N-cadherin cleavage by ADAM10 and PS1. Neurosci Lett (2006) 1.22
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun (2008) 1.21
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol (2002) 1.16
Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients. Am J Hypertens (2008) 1.15
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. J Mol Biol (2008) 1.15
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet (2009) 1.12
Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res (2010) 1.09
Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol (2008) 1.09
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution. J Cell Biol (2004) 1.08
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Am J Med Genet B Neuropsychiatr Genet (2004) 1.07
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics (2009) 1.06
N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta (2004) 1.05
Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev (2009) 1.02
A neuropeptide ligand of the G protein-coupled receptor GPR103 regulates feeding, behavioral arousal, and blood pressure in mice. Proc Natl Acad Sci U S A (2006) 1.01
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A (2011) 1.00
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab (2005) 1.00
An "exacerbate-reverse" strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease. J Biol Chem (2011) 0.99
Distinction between the literal and intended meanings of sentences: a functional magnetic resonance imaging study of metaphor and sarcasm. Cortex (2011) 0.97
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol (2005) 0.95
Association of Merkel cell polyomavirus infection with clinicopathological differences in Merkel cell carcinoma. Hum Pathol (2012) 0.95
Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem (2009) 0.94
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab (2009) 0.93
Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol (2007) 0.93
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev (2007) 0.93
Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability. Circ Res (2010) 0.92
Activity-dependent regulation of beta-catenin via epsilon-cleavage of N-cadherin. Biochem Biophys Res Commun (2006) 0.92
Axonal dystrophy of dorsal root ganglion sensory neurons in a mouse model of Niemann-Pick disease type C. Exp Neurol (2004) 0.92
Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. Hum Mol Genet (2004) 0.92
Vascular endothelial cells that express dystroglycan are involved in angiogenesis. J Cell Sci (2002) 0.92
The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev (2012) 0.91
Biotinylated theta-toxin derivative as a probe to examine intracellular cholesterol-rich domains in normal and Niemann-Pick type C1 cells. J Lipid Res (2003) 0.91
Lack of AKT activation in lung cancer cells with EGFR mutation is a novel marker of cetuximab sensitivity. Cancer Biol Ther (2012) 0.91
Laminar cortical necrosis in adrenal crisis: sequential changes on MRI. Brain Dev (2007) 0.91
Acute encephalitis with refractory, repetitive partial seizures: case reports of this unusual post-encephalitic epilepsy. Brain Dev (2006) 0.91
Brainstem neuropathology in a mouse model of Niemann-Pick disease type C. J Neurol Sci (2008) 0.90
Presenilin 1 is involved in the maturation of beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1). J Neurosci Res (2007) 0.90
Benign and malignant tumors in Down syndrome: analysis of the 1514 autopsied cases in Japan. Pediatr Int (2011) 0.90
Aberrant promoter methylation and expression of the imprinted PEG3 gene in glioma. Proc Jpn Acad Ser B Phys Biol Sci (2009) 0.89
Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease. Biochim Biophys Acta (2007) 0.89
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts. J Biol Chem (2011) 0.89
LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease. Steroids (2013) 0.88
Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev (2006) 0.88
Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol (2011) 0.87
Neural substrates of sarcasm: a functional magnetic-resonance imaging study. Brain Res (2006) 0.87
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case. Neuropathology (2013) 0.87
Smad expression of hepatic stellate cells in liver cirrhosis in vivo and hepatic stellate cell line in vitro. Pathol Int (2003) 0.87
A case of galactosialidosis with a homozygous Q49R point mutation. Brain Dev (2008) 0.86
A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem (2010) 0.86
Reactivation of persistent Epstein-Barr virus (EBV) causes secretion of thyrotropin receptor antibodies (TRAbs) in EBV-infected B lymphocytes with TRAbs on their surface. Autoimmunity (2015) 0.86
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res (2006) 0.86
Coordinate downregulation of a novel imprinted transcript ITUP1 with PEG3 in glioma cell lines. DNA Res (2004) 0.86
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci (2006) 0.86
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat (2011) 0.85
Simultaneous quantification of glucosylceramide and galactosylceramide by normal-phase HPLC using O-phtalaldehyde derivatives prepared with sphingolipid ceramide N-deacylase. Glycobiology (2009) 0.85
Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins. Cardiovasc Res (2013) 0.85