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Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Berguig, Geoffrey Y; Martin, Nathan T; Creer, Athena Y; Xie, Lin; Zhang, Lening; Murphy, Ryan; Pacheco, Glenn; Bullens, Sherry; Olbertz, Joy; Weng, Haoling H.
Afiliación
  • Berguig GY; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: geoffrey.berguig@bmrn.com.
  • Martin NT; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Creer AY; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Xie L; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Zhang L; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Murphy R; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Pacheco G; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Bullens S; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Olbertz J; BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Weng HH; BioMarin Pharmaceutical Inc., Novato, CA, USA.
Mol Genet Metab ; 128(4): 422-430, 2019 12.
Article en En | MEDLINE | ID: mdl-31648944
In phenylketonuria (PKU), mutations of the phenylalanine hydroxylase (PAH) gene decrease the ability of PAH to convert phenylalanine (Phe) to tyrosine (Tyr), resulting in Phe accumulation in the blood and brain and disruption of neurotransmitter (NT) biosynthesis and metabolism. The following translational study explored the relationship between pegvaliase-mediated Phe correction in plasma and the NT biosynthesis and metabolism pathway in mice and humans with PKU. Lower plasma Phe levels were associated with normalization of the NT biosynthesis pathway which correlated with an improvement in inattention symptoms in subjects with PKU.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina / Fenilcetonurias / Encéfalo / Neurotransmisores Límite: Animals / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina / Fenilcetonurias / Encéfalo / Neurotransmisores Límite: Animals / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos