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Article

Lack of neuropathy-related phenotypes in hint1 knockout mice.

Journal of neuropathology and experimental neurology - 1 Jul 2014

Seburn Kevin L, Morelli Kathryn H, Jordanova Albena, Burgess Robert W

Abstract excerpt

Mutations in HINT1, the gene encoding histidine triad nucleotide-binding protein 1 (HINT1), cause a recessively inherited peripheral neuropathy that primarily involves motor dysfunction and is usually associated with neuromyotonia (i.e. prolonged muscle contraction resulting from hyperexcitability of peripheral nerves). Because these mutations are hypothesized to cause loss of function, we analyzed Hint1 knockout...

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Source

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Identifiers

PMID: 24918641
DOI: 10.1097/NEN.0000000000000085
PMCID: PMC4098130

Genes

HINT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Lack of neuropathy-related phenotypes in hint1 knockout mice.PMID 24918641Read ↗

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HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Semantic proximity Read ↗

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy.Semantic proximity Read ↗

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.Semantic proximity Read ↗

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.Semantic proximity Read ↗

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.Semantic proximity Read ↗

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.Semantic proximity Read ↗

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