Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase

Type 10 17β-hydroxysteroid dehydrogenase (17β-HSD10), a homo-tetrameric multifunctional protein with 1044 residues encoded by the HSD17B10 gene, is necessary for brain cognitive function. Missense mutations result in infantile neurodegeneration, an inborn error in isoleucine metabolism. A 5-methylcy...

Descripción completa

Detalles Bibliográficos
Autores principales: He, Xue-Ying, Dobkin, Carl, Brown, William Ted, Yang, Song-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218265/
https://www.ncbi.nlm.nih.gov/pubmed/37239833
http://dx.doi.org/10.3390/ijms24108487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218265/
https://www.ncbi.nlm.nih.gov/pubmed/37239833
http://dx.doi.org/10.3390/ijms24108487

Ejemplares similares