Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
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Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. / Kollmann, Katrin; Uusi-Rauva, Kristiina; Scifo, Enzo; Tyynelä, Jaana; Jalanko, Anu; Braulke, Thomas.
In: BBA-MOL BASIS DIS, Vol. 1832, No. 11, 01.11.2013, p. 1866-81.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
AU - Kollmann, Katrin
AU - Uusi-Rauva, Kristiina
AU - Scifo, Enzo
AU - Tyynelä, Jaana
AU - Jalanko, Anu
AU - Braulke, Thomas
N1 - Copyright © 2013 Elsevier B.V. All rights reserved.
PY - 2013/11/1
Y1 - 2013/11/1
N2 - Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders with variable age of onset, characterized by lysosomal accumulation of autofluorescent ceroid lipopigments, neuroinflammation, photoreceptor- and neurodegeneration. Most of the NCL-related genes encode soluble and transmembrane proteins which localize to the endoplasmic reticulum or to the endosomal/lysosomal compartment and directly or indirectly regulate lysosomal function. Recently, exome sequencing led to the identification of four novel gene defects in NCL patients and a new NCL nomenclature currently comprising CLN1 through CLN14. Although the precise function of most of the NCL proteins remains elusive, comprehensive analyses of model organisms, particularly mouse models, provided new insight into pathogenic mechanisms of NCL diseases and roles of mutant NCL proteins in cellular/subcellular protein and lipid homeostasis, as well as their adaptive/compensatorial regulation at the transcriptional level. This review summarizes the current knowledge on the expression, function and regulation of NCL proteins and their impact on lysosomal integrity. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
AB - Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders with variable age of onset, characterized by lysosomal accumulation of autofluorescent ceroid lipopigments, neuroinflammation, photoreceptor- and neurodegeneration. Most of the NCL-related genes encode soluble and transmembrane proteins which localize to the endoplasmic reticulum or to the endosomal/lysosomal compartment and directly or indirectly regulate lysosomal function. Recently, exome sequencing led to the identification of four novel gene defects in NCL patients and a new NCL nomenclature currently comprising CLN1 through CLN14. Although the precise function of most of the NCL proteins remains elusive, comprehensive analyses of model organisms, particularly mouse models, provided new insight into pathogenic mechanisms of NCL diseases and roles of mutant NCL proteins in cellular/subcellular protein and lipid homeostasis, as well as their adaptive/compensatorial regulation at the transcriptional level. This review summarizes the current knowledge on the expression, function and regulation of NCL proteins and their impact on lysosomal integrity. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
KW - Animals
KW - Humans
KW - Membrane Proteins
KW - Mice
KW - Neuronal Ceroid-Lipofuscinoses
KW - Thiolester Hydrolases
U2 - 10.1016/j.bbadis.2013.01.019
DO - 10.1016/j.bbadis.2013.01.019
M3 - SCORING: Journal article
C2 - 23402926
VL - 1832
SP - 1866
EP - 1881
JO - BBA-MOL BASIS DIS
JF - BBA-MOL BASIS DIS
SN - 0925-4439
IS - 11
ER -