Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaEmerging novel concept of chaperone therapies for protein misfolding diseasesCompromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiencyFrom structural biology to designing therapy for inborn errors of metabolismNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseChaperoning G protein-coupled receptors: from cell biology to therapeuticsPharmacological Chaperoning: A Potential Treatment for PMM2-CDG.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Progress toward improved therapies for inborn errors of metabolism.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Protein misfolding diseases: prospects of pharmacological treatment.Conformational stabilization as a strategy to prevent nucleophosmin mislocalization in leukemia.Experimental and computational evidence on conformational fluctuations as a source of catalytic defects in genetic diseases
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Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 13 May 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@en
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@nl
type
label
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@en
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@nl
prefLabel
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@en
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@nl
P2093
P2860
P356
P1476
Pharmacological chaperones as ...... hylmalonic aciduria cblB type.
@en
P2093
Ana Jorge-Finnigan
Aurora Martinez
Begoña Merinero
Belén Pérez
Lourdes R Desviat
Magdalena Ugarte
Pedro Ruíz-Sala
Ruma Banerjee
Sandra Brasil
P2860
P304
P356
10.1093/HMG/DDT217
P577
2013-05-13T00:00:00Z