Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase. Factors that induce hepatic heme biosynthesis induce episodic attacks in heterozygous patien...

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Detalles Bibliográficos
Autores principales: Berger, Stefanie, Stattmann, Miranda, Cicvaric, Ana, Monje, Francisco J., Coiro, Pierluca, Hotka, Matej, Ricken, Gerda, Hainfellner, Johannes, Greber-Platzer, Susanne, Yasuda, Makiko, Desnick, Robert J., Pollak, Daniela D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082933/
https://www.ncbi.nlm.nih.gov/pubmed/32197664
http://dx.doi.org/10.1186/s40478-020-00910-z

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