Published in Exp Neurol on June 01, 2004
Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease. PLoS Genet (2005) 1.77
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease. Acta Neuropathol (2011) 1.26
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis (2011) 1.00
Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet (2009) 0.97
Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin. Am J Pathol (2005) 0.94
dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration. PLoS One (2013) 0.94
Disruption of fibroblast growth factor receptor signaling in nonmyelinating Schwann cells causes sensory axonal neuropathy and impairment of thermal pain sensitivity. J Neurosci (2009) 0.83
Axonal degeneration in an Alzheimer mouse model is PS1 gene dose dependent and linked to intraneuronal Aβ accumulation. Front Aging Neurosci (2014) 0.82
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. Cell Death Dis (2016) 0.77
Autophagy facilitates secretion and protects against degeneration of the Harderian gland. Autophagy (2015) 0.75
Synaptic failure: The achilles tendon of sphingolipidoses. J Neurosci Res (2016) 0.75
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease. Mol Genet Metab (2012) 2.52
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
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
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
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
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
The catalytic architecture of leukotriene C4 synthase with two arginine residues. 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
Crystal structure of purine nucleoside phosphorylase from Thermus thermophilus. J Mol Biol (2004) 0.96
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol (2005) 0.95
Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem (2009) 0.94
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev (2007) 0.93
Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol (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
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
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
Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease. Biochim Biophys Acta (2007) 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
Neural substrates of sarcasm: a functional magnetic-resonance imaging study. Brain Res (2006) 0.87
Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol (2011) 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
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res (2006) 0.86
A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem (2010) 0.86
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci (2006) 0.86
Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins. Cardiovasc Res (2013) 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
A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases. Anal Biochem (2008) 0.85
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat (2011) 0.85
Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann-Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease. Biol Pharm Bull (2015) 0.84
Subtype switching of T-type Ca 2+ channels from Cav3.2 to Cav3.1 during differentiation of embryonic stem cells to cardiac cell lineage. Circ J (2005) 0.84
Evidence for proteasomal degradation of Kv1.5 channel protein. Biochem Biophys Res Commun (2005) 0.84
New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol (2003) 0.83
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. Brain Dev (2010) 0.83
Familial limb pain in childhood: unusual manifestation of migraine? Brain Dev (2006) 0.83
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain Dev (2002) 0.83
Behavioral and psychiatric disorders in Prader-Willi syndrome: a population study in Japan. Brain Dev (2007) 0.83
Basal ganglia germinoma: diagnostic value of MR spectroscopy and (11)C-methionine positron emission tomography. J Neurol Sci (2008) 0.83
Reduced sensitivity of Niemann-Pick C1-deficient cells to theta-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles. Histochem Cell Biol (2004) 0.83
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. Gene (2012) 0.82
Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis. Mol Genet Metab (2012) 0.82
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. Mol Genet Metab (2005) 0.82
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy. Epilepsia (2006) 0.82
Associated factors in neonatal hypoglycemic brain injury. Brain Dev (2008) 0.82
Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides. Exp Cell Res (2008) 0.81
Stabilizing effects of eicosapentaenoic acid on Kv1.5 channel protein expressed in mammalian cells. Eur J Pharmacol (2008) 0.81
Frontal behavioral syndromes in Prader-Willi syndrome. Brain Dev (2008) 0.81
The TSC1 gene product hamartin interacts with NADE. Mol Cell Neurosci (2007) 0.81
Copper incorporation into ceruloplasmin is regulated by Niemann-Pick C1 protein. Hepatol Res (2011) 0.81
Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia. Epilepsy Res (2009) 0.81
Adipose stem cell sheets improved cardiac function in the rat myocardial infarction, but did not alter cardiac contractile responses to β-adrenergic stimulation. Biomed Res (2015) 0.80
Lower brainstem dysfunction in an infant with persistent primitive trigeminal artery. Brain Dev (2006) 0.79
Lysosomal accumulation of Trk protein in brain of GM₁ -gangliosidosis mouse and its restoration by chemical chaperone. J Neurochem (2011) 0.79
Seleno-detergent MAD phasing of leukotriene C4 synthase in complex with dodecyl-β-D-selenomaltoside. Acta Crystallogr Sect F Struct Biol Cryst Commun (2011) 0.79
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Mol Ther (2013) 0.79
Dimeric crystal structure of rabbit L-gulonate 3-dehydrogenase/lambda-crystallin: insights into the catalytic mechanism. J Mol Biol (2010) 0.79
Structural basis of the GM2 gangliosidosis B variant. J Hum Genet (2003) 0.79
Proteasomal degradation of Kir6.2 channel protein and its inhibition by a Na+ channel blocker aprindine. Biochem Biophys Res Commun (2005) 0.79
Molecular and structural studies of the GM2 gangliosidosis 0 variant. J Hum Genet (2002) 0.79
Effect of losartan and benzbromarone on the level of human urate transporter 1 mRNA. Arzneimittelforschung (2010) 0.79
Stabilization of Kv1.5 channel protein by bepridil through its action as a chemical chaperone. Eur J Pharmacol (2012) 0.78
Changes of HCN gene expression and I(f) currents in Nkx2.5-positive cardiomyocytes derived from murine embryonic stem cells during differentiation. Biomed Res (2008) 0.78
Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate. Circ J (2007) 0.78
Antisense in vivo knockdown of synaptotagmin I and synapsin I by HVJ-liposome mediated gene transfer modulates ischemic injury of hippocampus in opposing ways. Neurosci Res (2003) 0.78
Monozygotic twins discordant for Klippel-Feil syndrome. Pediatr Neurol (2006) 0.78
Different distribution of Cav3.2 and Cav3.1 transcripts encoding T-type Ca(2+) channels in the embryonic heart of mice. Biomed Res (2010) 0.78