Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.
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Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyCompromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiencyMolecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTMutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and functionHow genetic errors in GPCRs affect their function: Possible therapeutic strategiesFrom structural biology to designing therapy for inborn errors of metabolismNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseEffect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsPharmacological Chaperoning: A Potential Treatment for PMM2-CDG.Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaPharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyProgress toward improved therapies for inborn errors of metabolism.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Genetics of Phenylketonuria: Then and Now.Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.Small molecules as therapeutic agents for inborn errors of metabolism.Cysteamine revisited: repair of arginine to cysteine mutations.Protein misfolding diseases: prospects of pharmacological treatment.Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Site-to-site interdomain communication may mediate different loss-of-function mechanisms in a cancer-associated NQO1 polymorphism.Conformational stabilization as a strategy to prevent nucleophosmin mislocalization in leukemia.Formal Models of Biological Systems.Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution.The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.Experimental and computational evidence on conformational fluctuations as a source of catalytic defects in genetic diseases
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P2860
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Innovative strategies to treat ...... s and proteostasis regulators.
@en
type
label
Innovative strategies to treat ...... s and proteostasis regulators.
@en
prefLabel
Innovative strategies to treat ...... s and proteostasis regulators.
@en
P2093
P2860
P1476
Innovative strategies to treat ...... es and proteostasis regulators
@en
P2093
Ania C Muntau
Felix Mayer
Michael Staudigl
Søren W Gersting
P2860
P2888
P304
P356
10.1007/S10545-014-9701-Z
P50
P577
2014-04-01T00:00:00Z
P5875
P6179
1009631078