Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
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Sanfilippo syndrome: causes, consequences, and treatmentsNew therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesNDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis DisordersFrom structural biology to designing therapy for inborn errors of metabolismA commentary on the utility of a new L-DOPA-responsive dystonia mouse modelProgranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.Disease models for the development of therapies for lysosomal storage diseases.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.N-Alkyl-, 1-C-Alkyl-, and 5-C-Alkyl-1,5-dideoxy-1,5-imino-(L)-ribitols as Galactosidase Inhibitors.Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Small molecules as therapeutic agents for inborn errors of metabolism.Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease.When proteostasis goes bad: Protein aggregation in the cell.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Screening methods for identifying pharmacological chaperones.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Newborn screening for Fabry disease in the north-west of Spain.Ligand-promoted protein folding by biased kinetic partitioning.Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects.AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.Orphan diseases: state of the drug discovery art.E-Learning for Rare Diseases: An Example Using Fabry Disease.Folding Defects Leading to Primary Hyperoxaluria.Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.Interdomain conformational flexibility underpins the activity of UGGT, the eukaryotic glycoprotein secretion checkpoint.High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.N-Guanidino Derivatives of 1,5-Dideoxy-1,5-imino-d-xylitol are Potent, Selective, and Stable Inhibitors of β-Glucocerebrosidase.Accessing 2-substituted piperidine iminosugars by organometallic addition/intramolecular reductive amination: aldehyde vs. nitrone route.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.A rescue by chaperonesBiosynthesis and Biological Activity of Carbasugars
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P2860
Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Pharmacological Chaperone Ther ...... f Lysosomal Storage Disorders.
@en
type
label
Pharmacological Chaperone Ther ...... f Lysosomal Storage Disorders.
@en
prefLabel
Pharmacological Chaperone Ther ...... f Lysosomal Storage Disorders.
@en
P2093
P2860
P356
P1433
P1476
Pharmacological Chaperone Ther ...... f Lysosomal Storage Disorders.
@en
P2093
Generoso Andria
Giancarlo Parenti
Kenneth J Valenzano
P2860
P304
P356
10.1038/MT.2015.62
P577
2015-04-16T00:00:00Z