Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.

Majtan, Tomas; Hulková, Helena; Park, Insun; Krijt, Jakub; Kozich, Viktor; Bublil, Erez M; Kraus, Jan P

Majtan, Tomas; Hulková, Helena; Park, Insun; Krijt, Jakub; Kozich, Viktor; Bublil, Erez M; Kraus, Jan P.

Afiliação

Majtan T; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA; tomas.majtan@ucdenver.edu.
Hulková H; Institute of Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Park I; Institute of Pathology, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic; and.
Krijt J; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Kozich V; Institute of Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Bublil EM; Institute of Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Kraus JP; Orphan Technologies Limited, Rapperswil, Switzerland.

FASEB J ; 31(12): 5495-5506, 2017 12.

Article em En | MEDLINE | ID: mdl-28821635

Assuntos

Cistationina beta-Sintase/metabolismo; Cistationina beta-Sintase/uso terapêutico; Fígado Gorduroso/prevenção & controle; Homocistinúria/tratamento farmacológico; Homocistinúria/enzimologia; Hepatopatias/prevenção & controle; Osteoporose/prevenção & controle; Animais; Composição Corporal/efeitos dos fármacos; Cistationina beta-Sintase/genética; Modelos Animais de Doenças; Fígado Gorduroso/enzimologia; Feminino; Homocistinúria/metabolismo; Homocistinúria/patologia; Fígado/efeitos dos fármacos; Fígado/enzimologia; Fígado/metabolismo; Fígado/patologia; Hepatopatias/enzimologia; Masculino; Camundongos; Camundongos Knockout; Proteínas Recombinantes/uso terapêutico

Palavras-chave

PEGylation; cystathionine ß-synthase; homocysteine; preclinical drug development; rare inherited disease

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteoporose / Cistationina beta-Sintase / Fígado Gorduroso / Homocistinúria / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: FASEB J Assunto da revista: BIOLOGIA / FISIOLOGIA Ano de publicação: 2017 Tipo de documento: Article

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