Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.
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Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP)Characterization of CA XV, a new GPI-anchored form of carbonic anhydraseEmerging novel concept of chaperone therapies for protein misfolding diseasesSeipinopathy: a novel endoplasmic reticulum stress-associated diseaseA therapeutic chemical chaperone inhibits cholera intoxication and unfolding/translocation of the cholera toxin A1 subunitPharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital AmaurosisThe pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failureLuminol-based chemiluminescent signals: clinical and non-clinical application and future uses.Pharmacological chaperone therapy for Fabry diseaseCarbonic anhydrase XIV deficiency produces a functional defect in the retinal light response.Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.A role for aberrant protein palmitoylation in FFA-induced ER stress and β-cell deathEndoplasmic Reticulum Stress and Unfolded Protein Response Pathways: Potential for Treating Age-related Retinal DegenerationPhenylbutyric acid suppresses protein accumulation-mediated ER stress in retrovirus-infected astrocytes and delays onset of paralysis in infected miceSignal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperoneActive-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.Molecular chaperones and photoreceptor function.Targeting histone deacetylases for the treatment of diseaseAllelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.Epigenetic treatment of neurological disease.Targeting Huntington's disease through histone deacetylases.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin.Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.Endoplasmic reticulum stress response and bone loss in experimental periodontitis in mice.
P2860
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P2860
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 04 August 2004
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@en
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@nl
type
label
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@en
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@nl
prefLabel
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@en
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@nl
P2093
P2860
P356
P1476
Chemical chaperones protect fr ...... ed in retinitis pigmentosa 17.
@en
P2093
Abdul Waheed
Giuseppe Bonapace
Gul N Shah
William S Sly
P2860
P304
12300-12305
P356
10.1073/PNAS.0404764101
P407
P577
2004-08-04T00:00:00Z