HINT1 neuropathy: Expanding the genotype and phenotype spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14198
Abstract: Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33… read more here.
Keywords: spectrum hint1; phenotype; hint1; hint1 neuropathy ... See more keywords
The most common European HINT1 neuropathy variant phenotype and its case studies
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1084335
Abstract: 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… read more here.
Keywords: phenotype; hint1; hint1 neuropathy; common european ... See more keywords