Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.

doi:10.1093/hmg/ddac295

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Article

Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.

Human molecular genetics - 6 Apr 2023

Pacifico Paola, Testa Giovanna, Amodeo Rosy, Mainardi Marco, Tiberi Alexia, Convertino Domenica, Arevalo Juan Carlos, Marchetti Laura, Costa Mario, Cattaneo Antonino, Capsoni Simona

Abstract excerpt

A functional nerve growth factor NGF-Tropomyosin Receptor kinase A (TrkA) system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals. Indeed, mutations in the gene encoding for TrkA are responsible for a rare condition, named Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV), characterized by the loss of response to noxious...

Topics

Hereditary Sensory and Autonomic Neuropathies
Humans
Animals
Mice
Disease Models, Animal
Mutation
Receptor, trkA
Gene Knock-In Techniques
Nerve Growth Factor
Phosphorylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, Lethal

Pain

Ganglia, Spinal

Skin

Sympathetic Nervous System

Hypohidrosis

Behavior, Animal

Source

Open in PubMed Open full text

Identifiers

PMID: 36537577
DOI: 10.1093/hmg/ddac295
PMCID: PMC10077510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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