Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

被引：92

作者：

Warrier, Varun ^{[1
]}

Vieira, Mariana ^{[2
]}

Mole, Sara E. ^{[2
,3
]}

机构：

[1] UCL, Div Biosci, London WC1E 6BT, England

[2] UCL, MRC Lab Mol Cell Biol, London WC1E 6BT, England

[3] UCL, UCL Inst Child Hlth, Dept Genet Evolut & Environm, London WC1E 6BT, England

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2013年 / 1832卷 / 11期

关键词：

Batten; CLN; Neuronal ceroid lipofuscinosis; NCL; CATHEPSIN-D DEFICIENCY; TRANSMEMBRANE PROTEIN; MUTANT MICE; LIPOFUSCINOSIS; MUTATIONS; ONSET; DISEASE; KCTD7; CLN8; ASSOCIATION;

D O I：

10.1016/j.bbadis.2013.03.017

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression. There are still disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：1827 / 1830

页数：4

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