The most common European HINT1 neuropathy variant phenotype and its case studies

HINT1 is an ubiquitous homodimeric purine phosphoramidase belonging to the histidine-triad superfamily. In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances. Changes in HINT1 gene are associated with autosomal recessive axonal...

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Detalles Bibliográficos
Autores principales: Rozevska, Marija, Rots, Dmitrijs, Gailite, Linda, Linde, Ronalds, Mironovs, Stanislavs, Timcenko, Maksims, Linovs, Viktors, Locmele, Dzintra, Micule, Ieva, Lace, Baiba, Kenina, Viktorija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981799/
https://www.ncbi.nlm.nih.gov/pubmed/36873433
http://dx.doi.org/10.3389/fneur.2023.1084335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981799/
https://www.ncbi.nlm.nih.gov/pubmed/36873433
http://dx.doi.org/10.3389/fneur.2023.1084335

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