PubRank

Katsumi Higaki

Author PubWeight™ 37.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Complete genetic correction of ips cells from Duchenne muscular dystrophy. Mol Ther 2009 1.74
2 Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A 2003 1.57
3 A highly stable and nonintegrated human artificial chromosome (HAC) containing the 2.4 Mb entire human dystrophin gene. Mol Ther 2008 1.27
4 Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun 2008 1.21
5 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
6 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
7 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
8 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
9 Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem 2009 0.94
10 Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab 2009 0.93
11 Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol 2007 0.93
12 Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability. Circ Res 2010 0.92
13 The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev 2012 0.91
14 Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts. J Biol Chem 2011 0.89
15 Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev 2006 0.88
16 Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol 2011 0.87
17 A case of galactosialidosis with a homozygous Q49R point mutation. Brain Dev 2008 0.86
18 A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies. Chembiochem 2010 0.86
19 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
20 Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. Biochem Biophys Res Commun 2005 0.85
21 Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins. Cardiovasc Res 2013 0.85
22 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
23 Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis. Mol Genet Metab 2012 0.82
24 Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. Gene 2012 0.82
25 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
26 Stabilizing effects of eicosapentaenoic acid on Kv1.5 channel protein expressed in mammalian cells. Eur J Pharmacol 2008 0.81
27 The TSC1 gene product hamartin interacts with NADE. Mol Cell Neurosci 2007 0.81
28 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
29 Lysosomal accumulation of Trk protein in brain of GM₁ -gangliosidosis mouse and its restoration by chemical chaperone. J Neurochem 2011 0.79
30 A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Mol Ther 2013 0.79
31 Inhibition of nuclear factor-κB activity by small interfering RNA in esophageal squamous cell carcinoma cell lines. Oncol Rep 2011 0.79
32 Stabilization of Kv1.5 channel protein by bepridil through its action as a chemical chaperone. Eur J Pharmacol 2012 0.78
33 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
34 Functional stabilization of Kv1.5 protein by Hsp70 in mammalian cell lines. Biochem Biophys Res Commun 2008 0.77
35 Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients. Brain Dev 2004 0.77
36 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
37 Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier. Org Biomol Chem 2014 0.77
38 Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. Clin Endocrinol (Oxf) 2012 0.77
39 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
40 Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells. Brain Dev 2007 0.76
41 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
42 Intracerebral cell transplantation therapy for murine GM1 gangliosidosis. Brain Dev 2008 0.76
43 Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat. Clin Exp Nephrol 2014 0.75
44 Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations. Mol Genet Metab 2010 0.75
45 Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil. Pacing Clin Electrophysiol 2014 0.75
46 [Chemical chaperone therapy for lysosomal storage diseases]. Seikagaku 2015 0.75
47 M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells. Circ J 2016 0.75