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

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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Bibliographic Details
Main Authors: Marija Rozevska, Dmitrijs Rots, Linda Gailite, Ronalds Linde, Stanislavs Mironovs, Maksims Timcenko, Viktors Linovs, Dzintra Locmele, Ieva Micule, Baiba Lace, Viktorija Kenina
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neurology
Subjects:
HINT1
nerve USG
axonal polyneuropathy
population frequency
impaired mental performance
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1084335/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1084335/full

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