[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]

Autor:	Drenth, J.P.H., Morsche, R.H.M. te, Michiels, J.J.M.
Rok vydání:	2006
Předmět:	Genetic defects of metabolism [UMCN 5.1] Membrane transport and intracellular motility [NCMLS 5] Molecular gastro-enterology and hepatology [IGMD 2]
Zdroj:	Nederlands Tijdschrift voor Geneeskunde, 150, 4, pp. 194-6 Nederlands Tijdschrift voor Geneeskunde, 150, 194-6
ISSN:	0028-2162
Popis:	Contains fulltext : 51245.pdf (Publisher’s version ) (Closed access) Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7ee78e1fd4adb0767a04ed80b29f1fda https://hdl.handle.net/2066/51245 Zobrazit plný text záznamu