Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
about
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanismsEDEM1 reveals a quality control vesicular transport pathway out of the endoplasmic reticulum not involving the COPII exit sitesPharmacological chaperoning: a primer on mechanism and pharmacologyThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyEffects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and StabilityThe Molecular Basis of Pharmacological Chaperoning in Human α-GalactosidaseEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XOral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused AgalsidaseThe validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatThe pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.Fabry disease - current treatment and new drug development.Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Chemical and biological approaches synergize to ameliorate protein-folding diseases.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseTherapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Pharmacological chaperone therapy for Fabry diseaseProtein quality control: the who's who, the where's and therapeutic escapes.Unfolding the Therapeutic Potential of Chemical Chaperones for Age-related Macular DegenerationCoformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry MiceNovel therapeutic targets for the treatment of Fabry disease.Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjectsLysosomal storage disorders in the newborn.A thermodynamic assay to test pharmacological chaperones for Fabry disease.Altered dynamics of a lipid raft associated protein in a kidney model of Fabry diseaseGlycosidase inhibition: assessing mimicry of the transition state.Protein N-glycosylation, protein folding, and protein quality control.Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.Single gene disorders associated with stroke: a review and update on treatment options.Fabry disease: raising awareness of the disease among physicians.Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.Recent advances and novel treatments for sphingolipidoses.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Unfolded protein response in Gaucher disease: from human to Drosophila.Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
P2860
Q24673451-72ADE644-A63B-4DA2-9BCA-2A55D327B93CQ24683239-74B799FC-9332-4B29-A098-D43891840223Q27001695-67E53F09-7443-4876-8B29-9026F6F7B19FQ27015793-2DED596D-232A-4550-A0F3-3602A31678FFQ27654912-ACAD2BFE-AF3E-48A9-9D0A-2A8CFAC7FD3FQ27676392-606D27D0-597C-4DEF-ACA9-B1A9F3E247C5Q28073452-DABBFDE0-E0E4-4245-9376-1EEA3BA2E16BQ28547115-B61BE60F-739A-4830-87D2-0EA763D32F96Q33567658-8AA94E29-2245-4EDE-882D-1EB233CA6825Q33730412-9EB03191-A5A9-4D34-92D3-35E7AA9B9593Q34368512-2257778F-AE26-4D28-85D8-6A7D320A9918Q34614418-264C64F8-6E9D-40FA-9DEF-54F0F7E3C406Q34665552-824A25DB-BD29-4F53-A165-855958C57FAAQ34822475-D1ECFC89-FEE4-4409-B12B-D28B71655224Q35007910-07FE667C-F814-4AFC-B189-6BE98C35C59EQ35207863-7C1D9BDE-2604-4D65-A4EB-10C06AC3A4D0Q35550530-B043C999-83DA-4E21-8586-74B9C7B8D22EQ35755438-7F703D8C-336E-4165-8052-4769A2278911Q36432134-7E97C433-E8E7-4A29-A327-61119A5389EBQ36697237-4887E170-44EC-4E28-8F03-78E80724979BQ36756784-847FCDD6-53FB-4834-B35B-7FEAD2A0BF15Q36822452-F810CCC0-4397-4650-9733-571C9A4EEFCEQ36892352-759D69CF-E262-409E-9047-8FDE55339A7CQ36951293-13FDAE97-6AA5-4199-A730-40B2516B7AEDQ37077180-EAA2E0D2-0F27-4AC5-A6F3-C5BC4232AF3CQ37401176-9BEB8962-44E2-4A2C-BF1D-980F76359636Q37539884-46E68EB3-C1CA-46CB-84C1-70D23CA9F5F0Q37624954-16CCE860-DE76-4B94-BC99-E7CD565AD325Q37672358-777EFAAE-A59C-4F37-B0F2-CAD8DCAA44F9Q37845738-2E080A68-3612-4328-89DB-77AEC0CD95B2Q37994740-16FBD061-9231-429E-9F18-E761BD883E83Q38004977-7919B338-B283-4E7E-B6C9-A1A1DF34F356Q38052848-BE5622DB-0D84-4FA6-9DE3-A58924273882Q38424066-517553BF-EEB5-4409-892F-71DBEEC15613Q38635135-08D9D92B-E469-49B7-8FB6-AD794F2631D4Q38844401-D860C520-A2C6-47FE-AE86-EBB57227E7FAQ39097940-197B372B-99CD-4C16-AA91-04C550314EF7Q41345156-18177663-396C-48FD-A024-70327944CF7BQ41671504-09C57CB6-A79D-43A5-B4B3-C57FE8B411BAQ42137809-CFC3A4CC-EAB8-4889-B671-D02353B37CC4
P2860
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Pharmacological chaperone corr ...... fficking-incompetent variants.
@ast
Pharmacological chaperone corr ...... fficking-incompetent variants.
@en
Pharmacological chaperone corr ...... fficking-incompetent variants.
@nl
type
label
Pharmacological chaperone corr ...... fficking-incompetent variants.
@ast
Pharmacological chaperone corr ...... fficking-incompetent variants.
@en
Pharmacological chaperone corr ...... fficking-incompetent variants.
@nl
prefLabel
Pharmacological chaperone corr ...... fficking-incompetent variants.
@ast
Pharmacological chaperone corr ...... fficking-incompetent variants.
@en
Pharmacological chaperone corr ...... fficking-incompetent variants.
@nl
P2093
P1476
Pharmacological chaperone corr ...... fficking-incompetent variants.
@en
P2093
Beat Steinmann
Christian Zuber
Jürgen Roth
Nils Bosshard
P304
P356
10.1152/AJPCELL.00426.2005
P577
2006-04-01T00:00:00Z