Succinic Semialdehyde Dehydrogenase Deficiency: An Update

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D m...

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Detalles Bibliográficos
Autores principales: Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, Thomas Opladen, Ritva Tikkanen
Formato: Artículo
Lenguaje:English
Publicado: MDPI AG 2020-02-01
Colección:Cells
Materias:
succinic semialdehyde dehydrogenase deficiency
gamma-amino butyric acid
organic acidurias
enzyme replacement therapy
pharmacological chaperones
clinical trials
autophagy
Acceso en línea:https://www.mdpi.com/2073-4409/9/2/477

Internet

https://www.mdpi.com/2073-4409/9/2/477

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