Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type. - Wikidata - wikimedia - TriplyDB

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

http://www.wikidata.org/entity/Q37111958

about

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia Emerging novel concept of chaperone therapies for protein misfolding diseases Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency From structural biology to designing therapy for inborn errors of metabolism Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease Chaperoning G protein-coupled receptors: from cell biology to therapeutics Pharmacological 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.

http://www.wikidata.org/entity/Q37111958

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 13 May 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Pharmacological chaperones as ...... hylmalonic aciduria cblB type.

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Pharmacological chaperones as ...... hylmalonic aciduria cblB type.

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type

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Pharmacological chaperones as ...... hylmalonic aciduria cblB type.

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Human Molecular Genetics

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Pharmacological chaperones as ...... hylmalonic aciduria cblB type.

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Ana Jorge-Finnigan

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Aurora Martinez

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Begoña Merinero

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Belén Pérez

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Lourdes R Desviat

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Magdalena Ugarte

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Pedro Ruíz-Sala

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Ruma Banerjee

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Sandra Brasil

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P2860

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Functional genomic, biochemical, and genetic characterization of the Salmonella pduO gene, an ATP:cob(I)alamin adenosyltransferase gene

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

Structure of ATP-bound human ATP:cobalamin adenosyltransferase

SwissDock, a protein-small molecule docking web service based on EADock DSS

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase

The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.

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3680-3689

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scholarly article

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10.1093/HMG/DDT217

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18

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22

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2013-05-13T00:00:00Z

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236837583

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23674520

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molecular chaperones

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3749860

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