A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria

Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway. Loss of HGD function leads to the accumulation of homogentisic acid (HGA) in connective body tissues in a process called ochronos...

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Detalles Bibliográficos
Autores principales: Lequeue, Sien, Neuckermans, Jessie, Nulmans, Ine, Schwaneberg, Ulrich, Vanhaecke, Tamara, De Kock, Joery
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663557/
https://www.ncbi.nlm.nih.gov/pubmed/36376482
http://dx.doi.org/10.1038/s41598-022-23702-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663557/
https://www.ncbi.nlm.nih.gov/pubmed/36376482
http://dx.doi.org/10.1038/s41598-022-23702-y

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