PubRank

Eiji Nanba

Author PubWeight™ 66.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A 2003 1.57
2 Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta. Drug Metab Dispos 2004 1.41
3 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
4 A method for producing transgenic cells using a multi-integrase system on a human artificial chromosome vector. PLoS One 2011 1.26
5 Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun 2008 1.21
6 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
7 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
8 Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol 2008 1.09
9 Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Am J Med Genet B Neuropsychiatr Genet 2004 1.07
10 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
11 Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 2009 1.02
12 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
13 Association of Merkel cell polyomavirus infection with clinicopathological differences in Merkel cell carcinoma. Hum Pathol 2012 0.95
14 Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab 2009 0.93
15 Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol 2007 0.93
16 Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. Hum Mol Genet 2004 0.92
17 The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev 2012 0.91
18 Lack of AKT activation in lung cancer cells with EGFR mutation is a novel marker of cetuximab sensitivity. Cancer Biol Ther 2012 0.91
19 Aberrant promoter methylation and expression of the imprinted PEG3 gene in glioma. Proc Jpn Acad Ser B Phys Biol Sci 2009 0.89
20 Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts. J Biol Chem 2011 0.89
21 Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev 2006 0.88
22 Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol 2011 0.87
23 Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case. Neuropathology 2013 0.87
24 A case of galactosialidosis with a homozygous Q49R point mutation. Brain Dev 2008 0.86
25 A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem 2010 0.86
26 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
27 Coordinate downregulation of a novel imprinted transcript ITUP1 with PEG3 in glioma cell lines. DNA Res 2004 0.86
28 No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. J Hum Genet 2007 0.85
29 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat 2011 0.85
30 Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. Biochem Biophys Res Commun 2005 0.85
31 Evidence for proteasomal degradation of Kv1.5 channel protein. Biochem Biophys Res Commun 2005 0.84
32 A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS). Intern Med 2010 0.84
33 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
34 New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol 2003 0.83
35 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain Dev 2002 0.83
36 Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene. Intern Med 2013 0.83
37 A polymorphism in the serotonin transporter gene regulatory region and frequency of migraine attacks. Headache 2002 0.83
38 Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. Gene 2012 0.82
39 Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis. Mol Genet Metab 2012 0.82
40 The TSC1 gene product hamartin interacts with NADE. Mol Cell Neurosci 2007 0.81
41 Presence of Epstein-Barr virus-infected B lymphocytes with thyrotropin receptor antibodies on their surface in Graves' disease patients and in healthy individuals. Autoimmunity 2014 0.81
42 The effect of cigarette smoke exposure and ascorbic acid intake on gene expression of antioxidant enzymes and other related enzymes in the livers and lungs of Shionogi rats with osteogenic disorders. Toxicol Sci 2003 0.81
43 Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism: a case-control study. Brain Dev 2007 0.81
44 Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation. J Neurosci Res 2007 0.80
45 Variation analysis of beta3-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity. Pediatr Int 2007 0.80
46 A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria. Clin Sci (Lond) 2002 0.79
47 Proteasomal degradation of Kir6.2 channel protein and its inhibition by a Na+ channel blocker aprindine. Biochem Biophys Res Commun 2005 0.79
48 A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Mol Ther 2013 0.79
49 Lysosomal accumulation of Trk protein in brain of GM₁ -gangliosidosis mouse and its restoration by chemical chaperone. J Neurochem 2011 0.79
50 Inhibition of nuclear factor-κB activity by small interfering RNA in esophageal squamous cell carcinoma cell lines. Oncol Rep 2011 0.79
51 Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. Intern Med 2011 0.78
52 A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. Intern Med 2013 0.78
53 No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. Neurosci Res 2005 0.78
54 Conformationally-locked N-glycosides with selective β-glucosidase inhibitory activity: identification of a new non-iminosugar-type pharmacological chaperone for Gaucher disease. J Med Chem 2012 0.77
55 Gastric adenocarcinoma with rhabdoid morphology. Gastric Cancer 2011 0.77
56 No association between the ryanodine receptor 3 gene and autism in a Japanese population. Psychiatry Clin Neurosci 2008 0.77
57 Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants. ACS Chem Biol 2014 0.77
58 Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. Clin Endocrinol (Oxf) 2012 0.77
59 Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients. Brain Dev 2004 0.77
60 Sonic hedgehog expression in Gli3 depressed mouse embryo, Pdn/Pdn. Congenit Anom (Kyoto) 2004 0.77
61 Quantitative computed tomography for enzyme replacement therapy in Pompe disease. Brain Dev 2012 0.77
62 Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier. Org Biomol Chem 2014 0.77
63 Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. Brain Dev 2007 0.77
64 Recurrent micronucleation through cell cycle progression in the presence of microtubule inhibitors. Cell Struct Funct 2015 0.77
65 Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients. Am J Med Genet B Neuropsychiatr Genet 2008 0.76
66 Expression of heat shock protein 70 and its mRNAs during ischemia-reperfusion in the rat prostate. Eur J Pharmacol 2004 0.76
67 No association between the neuronal pentraxin II gene polymorphism and autism. Prog Neuropsychopharmacol Biol Psychiatry 2007 0.76
68 Response of anti-oxidant enzymes mRNA in the neonatal rat liver exposed to 1,2,3,4-tetrachlorodibenzo-p-dioxin via lactation. Pediatr Int 2002 0.76
69 Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells. Brain Dev 2007 0.76
70 Intracerebral cell transplantation therapy for murine GM1 gangliosidosis. Brain Dev 2008 0.76
71 Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population. Brain Dev 2006 0.76
72 Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion. Biochem Biophys Res Commun 2003 0.76
73 Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts. Am J Med Genet A 2008 0.76
74 Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat. Clin Exp Nephrol 2014 0.75
75 Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis. Future Med Chem 2013 0.75
76 Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations. Mol Genet Metab 2010 0.75
77 Gastrin-releasing peptide receptor (GRPR) locus in Japanese subjects with autism. Brain Dev 2004 0.75
78 Posterior subthalamic area deep brain stimulation for fragile X-associated tremor/ataxia syndrome. Neuromodulation 2014 0.75
79 A case of adult onset metachromatic leukodystrophy. Psychiatry Clin Neurosci 2009 0.75
80 Developmental changes of Ni(2+) sensitivity and automaticity in Nkx2.5-positive cardiac precursor cells from murine embryonic stem cell. Circ J 2004 0.75
81 Serum soluble IL-6 receptor levels during the mobilization of stem cells to peripheral blood. Leuk Lymphoma 2002 0.75
82 [Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation]. No To Hattatsu 2016 0.75
83 State-dependent blocking actions of azimilide dihydrochlo-ride (NE-10064) on human cardiac Na(+) channels. Circ J 2004 0.75
84 N-hexacosanol reverses diabetic induced muscarinic hypercontractility of ileum in the rat. Eur J Pharmacol 2006 0.75
85 Cyclohexenonic long-chain fatty alcohol has therapeutic effects on diabetes-induced angiopathy in the rat aorta. Eur J Pharmacol 2007 0.75
86 [A case of middle-aged onset sialidosis type I]. Rinsho Shinkeigaku 2004 0.75
87 [Chemical chaperone therapy for lysosomal storage diseases]. Seikagaku 2015 0.75
88 A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy. Eur Neurol 2008 0.75
89 Integration of a transposon into the Gli3 gene in the Pdn mouse. Congenit Anom (Kyoto) 2002 0.75
90 Characteristic findings of auditory brainstem response and otoacoustic emission in the Bronx waltzer mouse. Brain Dev 2006 0.75
91 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. Hum Mutat 2004 0.75
92 Expression of HSP 70 and its mRNAS during ischemia-reperfusion in the rat bladder. Life Sci 2004 0.75
93 Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. Psychiatr Genet 2008 0.75