Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins

被引:74
作者
Kyttala, Aija
Lahtinen, Ulla
Braulke, Thomas
Hofmann, Sandra L.
机构
[1] Biomedicum Helsinki, Natl Publ Hlth Inst, Dept Mol Med, FIN-00251 Helsinki, Finland
[2] Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland
[3] Univ Helsinki, Biomedicum Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland
[4] Univ Hamburg, Childrens Hosp, Dept Biochem, D-20246 Hamburg, Germany
[5] Univ Texas, SW Med Ctr, Dept Internal Med, Dallas, TX 75390 USA
[6] Univ Texas, SW Med Ctr, Hamon Ctr Therapeut Oncol Res, Dallas, TX 75390 USA
来源
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2006年 / 1762卷 / 10期
关键词
Batten disease; lysosomal degradation; NCL; neurodegeneration; storage disease;
D O I
10.1016/j.bbadis.2006.05.007
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
Neuronal ceroid lipofucinoses (NCLs) are a group of severe neurodegenerative disorders characterized by accumulation of autofluorescent ceroid lipopigment in patients' cells. The different forms of NCL share many similar pathological features but result from mutations in different genes. The genes affected in NCLs encode both soluble and transmembrane proteins and are localized to ER or to the endosomes/lysosomes. Due to selective vulnerability of the central nervous system in the NCL disorders, the corresponding proteins are proposed to have important, tissue specific roles in the brain. The pathological similarities of the different NCLs have led not only to the grouping of these disorders but also to suggestion that the NCL proteins function in the same biological pathway. Despite extensive research, including the development of several model organisms for NCLs and establishment of high-throughput techniques, the precise biological function of many of the NCL proteins has remained elusive. The aim of this review is to summarize the current knowledge of the functions, or proposed functions, of the different NCL proteins. (c) 2006 Published by Elsevier B.V.
引用
收藏
页码:920 / 933
页数:14
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