IR@PKUHSC  > 北京大学基础医学院  > 病理学系
学科主题基础医学
Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK Animal Models of McLeod Neuroacanthocytosis Syndrome
Zhu, Xiang1,2; Cho, Eun-Sook3; Sha, Quan2,4; Peng, Jianbin2; Oksov, Yelena2; Kam, Siok Yuen5; Ho, Mengfatt5; Walker, Ruth H.6,7; Leer, Soohee2
刊名AMERICAN JOURNAL OF PATHOLOGY
2014-03-01
DOI10.1016/j.ajpath.2013.11.013
184期:3页:800-807
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pathology
资助者NIH ; NIH
研究领域[WOS]Pathology
关键词[WOS]AMYOTROPHIC-LATERAL-SCLEROSIS ; BLOOD-GROUP PROTEIN ; NEUROFILAMENT ACCUMULATION ; NERVOUS-SYSTEM ; MOUSE KELL ; GENE KEL ; TRANSPORT ; EXPRESSION ; COMPLEX ; ORGANIZATION
英文摘要

McLeod neuroacanthocytosis syndrome (MLS) is a rare X-Linked muttisystem 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 elucidate the functional roles of XK, Kell, and the XK-Kell complex associated with pathogenesis in MIS, we studied the pathology of the spinal cord, anterior roots, sciatic nerve, and skeletal muscle from knockout mouse models, using Kel(-/-), Xk(-/-), Kel(-/-)Xk(-/-), and wild-type mice aged 6 to 18 months. A striking finding was that giant axons were frequently associated with paranodaL demyelination. The pathology suggests probable anterograde progression from the spinal cord to the sciatic nerve. The neuropathologicaL abnormalities were found in all three genotypes, but were more marked in the double-knockout Kel(-/-)Xk(-/-) mice than in either Kel(-/-) or Xk/- mice. Skeletal muscles from Xk(-/-) and Kel(-/-)Xk(-/-) mice showed mild abnormalities, but those from Kel(-/-) mice were similar to the wild type. The more marked neuropathological abnormalities in Kel(-/-)Xk(-/-) mice suggest a possible functional association between XK and Kell in nonerythroid tissues.

语种英语
所属项目编号R01 HL075716
资助者NIH ; NIH
WOS记录号WOS:000332055500021
Citation statistics
Cited Times:3[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60420
Collection北京大学基础医学院_病理学系
作者单位1.Mt Sinai Sch Med, Dept Neurol, New York, NY USA
2.Peking Univ, Hlth Sci Ctr, Dept Pathol, Beijing 100191, Peoples R China
3.New York Blood Ctr, New York, NY 10021 USA
4.Immunomedics, Dept Cell Line Dev, Morris Plains, NJ USA
5.Natl Canc Ctr, Div Med Sci, Singapore, Singapore
6.Rutgers State Univ, New Jersey Med Sch, Dept Pathol & Lab Med Neuropathol, Newark, NJ 07102 USA
7.James J Peters VAMC, Dept Neurol, Bronx, NY USA
Recommended Citation
GB/T 7714
Zhu, Xiang,Cho, Eun-Sook,Sha, Quan,et al. Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK Animal Models of McLeod Neuroacanthocytosis Syndrome[J]. AMERICAN JOURNAL OF PATHOLOGY,2014,184(3):800-807.
APA Zhu, Xiang.,Cho, Eun-Sook.,Sha, Quan.,Peng, Jianbin.,Oksov, Yelena.,...&Leer, Soohee.(2014).Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK Animal Models of McLeod Neuroacanthocytosis Syndrome.AMERICAN JOURNAL OF PATHOLOGY,184(3),800-807.
MLA Zhu, Xiang,et al."Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK Animal Models of McLeod Neuroacanthocytosis Syndrome".AMERICAN JOURNAL OF PATHOLOGY 184.3(2014):800-807.
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