Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration

Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein le...

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Main Authors:	Xiao⁃yuan LI, Xian⁃wen CHEN
Format:	Article
Language:	English
Published:	Tianjin Huanhu Hospital 2012-06-01
Series:	Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:	Pantothenate kinase⁃associated neurodegeneration Genetics Review
Online Access:	http://www.cjcnn.org/index.php/cjcnn/article/view/352

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record_format	Article
spelling	doaj-e8abca542ad94f0db43f6335ff09ee732020-11-24T21:13:28ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312012-06-01123367371351Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegenerationXiao⁃yuan LIXian⁃wen CHENPantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein levels and catalytic activity and by disrupting maturation and stability of the mitochondrially targeted protein. In this article, we will review advances in inherited and clinical research of PKAN. DOI：10.3969/j.issn.1672⁃6731.2012.03.024http://www.cjcnn.org/index.php/cjcnn/article/view/352Pantothenate kinase⁃associated neurodegenerationGeneticsReview
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Xiao⁃yuan LI Xian⁃wen CHEN
spellingShingle	Xiao⁃yuan LI Xian⁃wen CHEN Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration Chinese Journal of Contemporary Neurology and Neurosurgery Pantothenate kinase⁃associated neurodegeneration Genetics Review
author_facet	Xiao⁃yuan LI Xian⁃wen CHEN
author_sort	Xiao⁃yuan LI
title	Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
title_short	Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
title_full	Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
title_fullStr	Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
title_full_unstemmed	Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
title_sort	advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
publisher	Tianjin Huanhu Hospital
series	Chinese Journal of Contemporary Neurology and Neurosurgery
issn	1672-6731
publishDate	2012-06-01
description	Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein levels and catalytic activity and by disrupting maturation and stability of the mitochondrially targeted protein. In this article, we will review advances in inherited and clinical research of PKAN. DOI：10.3969/j.issn.1672⁃6731.2012.03.024
topic	Pantothenate kinase⁃associated neurodegeneration Genetics Review
url	http://www.cjcnn.org/index.php/cjcnn/article/view/352
work_keys_str_mv	AT xiaoyuanli advancesininheritedandclinicalresearchofpantothenatekinaseassociatedneurodegeneration AT xianwenchen advancesininheritedandclinicalresearchofpantothenatekinaseassociatedneurodegeneration
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Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration

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