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Gaucher Disease: A Glance from a Medicinal Chemistry Perspective.
Prencipe, Filippo; Barzan, Chiara; Savian, Chiara; Spalluto, Giampiero; Carosati, Emanuele; De Amici, Marco; Mosconi, Giorgio; Gianferrara, Teresa; Federico, Stephanie; Da Ros, Tatiana.
Afiliación
  • Prencipe F; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • Barzan C; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • Savian C; Molecular Genetics Institute, CNR Via Abbiategrasso 207, 27100, Pavia, Italy.
  • Spalluto G; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • Carosati E; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • De Amici M; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • Mosconi G; Department of Pharmaceutical Sciences, University of Milano Via Luigi Mangiagalli 25, 20133, Milano, Italy.
  • Gianferrara T; Fidia Farmaceutici Via Ponte della Fabbrica 3/A, 35021, Abano Terme, Italy.
  • Federico S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
  • Da Ros T; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Via Licio Giorgieri 1, 34127, Trieste, Italy.
ChemMedChem ; 19(10): e202300641, 2024 May 17.
Article en En | MEDLINE | ID: mdl-38329692
ABSTRACT
Rare diseases are particular pathological conditions affecting a limited number of people and few drugs are known to be effective as therapeutic treatment. Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, belongs to this class of disorders, and it is considered the most common among the Lysosomal Storage Diseases. The two main therapeutic approaches are the Enzyme Replacement Therapy (ERT) and the Substrate Reduction Therapy (SRT). ERT, consisting in replacing the defective enzyme by administering a recombinant enzyme, is effective in alleviating the visceral symptoms, hallmarks of the most common subtype of the disease whereas it has no effects when symptoms involve CNS, since the recombinant protein is unable to significantly cross the Blood Brain Barrier. The SRT strategy involves inhibiting glucosylceramide synthase (GCS), the enzyme responsible for the production of the associated storage molecule. The rational design of new inhibitors of GCS has been hampered by the lack of either the crystal structure of the enzyme or an in-silico model of the active site which could provide important information regarding the interactions of potential inhibitors with the target, but, despite this, interesting results have been obtained and are herein reviewed.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inhibidores Enzimáticos / Enfermedad de Gaucher Límite: Humans Idioma: En Revista: ChemMedChem Asunto de la revista: FARMACOLOGIA / QUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inhibidores Enzimáticos / Enfermedad de Gaucher Límite: Humans Idioma: En Revista: ChemMedChem Asunto de la revista: FARMACOLOGIA / QUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania