Kollmann_2013_Biochim.Biophys.Acta_1832_1866

Reference

Title : Cell biology and function of neuronal ceroid lipofuscinosis-related proteins - Kollmann_2013_Biochim.Biophys.Acta_1832_1866
Author(s) : Kollmann K , Uusi-Rauva K , Scifo E , Tyynela J , Jalanko A , Braulke T
Ref : Biochimica & Biophysica Acta , 1832 :1866 , 2013
Abstract :

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.

PubMedSearch : Kollmann_2013_Biochim.Biophys.Acta_1832_1866
PubMedID: 23402926

Related information

Citations formats

Kollmann K, Uusi-Rauva K, Scifo E, Tyynela J, Jalanko A, Braulke T (2013)
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Biochimica & Biophysica Acta 1832 :1866

Kollmann K, Uusi-Rauva K, Scifo E, Tyynela J, Jalanko A, Braulke T (2013)
Biochimica & Biophysica Acta 1832 :1866