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Article

Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.

The American journal of pathology - 1 Mar 2014

Zhu Xiang, Cho Eun-Sook, Sha Quan, Peng Jianbin, Oksov Yelena, Kam Siok Yuen, Ho Mengfatt, Walker Ruth H, Lee Soohee

Abstract excerpt

McLeod neuroacanthocytosis syndrome (MLS) is a rare X-linked multisystem disease caused by XK gene mutations and characterized by hematological and neurological abnormalities. XK, a putative membrane transporter, is expressed ubiquitously and is covalently linked to Kell, an endothelin-3-converting enzyme (ECE-3). Absence of XK results in reduction of Kell at sites where both proteins are coexpressed. To...

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Identifiers

PMID: 24405768
DOI: 10.1016/j.ajpath.2013.11.013
PMCID: PMC3936324

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Source receipt: pubmed, retrieved 7 Sept 2026.

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