Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022891079> ?p ?o ?g. }
- W2022891079 endingPage "1881" @default.
- W2022891079 startingPage "1866" @default.
- W2022891079 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." @default.
- W2022891079 created "2016-06-24" @default.
- W2022891079 creator A5001667196 @default.
- W2022891079 creator A5053088339 @default.
- W2022891079 creator A5053247149 @default.
- W2022891079 creator A5056107874 @default.
- W2022891079 creator A5068241218 @default.
- W2022891079 creator A5083146140 @default.
- W2022891079 date "2013-11-01" @default.
- W2022891079 modified "2023-10-13" @default.
- W2022891079 title "Cell biology and function of neuronal ceroid lipofuscinosis-related proteins" @default.
- W2022891079 cites W1488986178 @default.
- W2022891079 cites W1503369988 @default.
- W2022891079 cites W1506802130 @default.
- W2022891079 cites W150868836 @default.
- W2022891079 cites W1522289497 @default.
- W2022891079 cites W1525474861 @default.
- W2022891079 cites W1528170782 @default.
- W2022891079 cites W1546743612 @default.
- W2022891079 cites W1550967330 @default.
- W2022891079 cites W1555972529 @default.
- W2022891079 cites W1577183978 @default.
- W2022891079 cites W1595081780 @default.
- W2022891079 cites W1597721823 @default.
- W2022891079 cites W1599539035 @default.
- W2022891079 cites W1607357356 @default.
- W2022891079 cites W1719651482 @default.
- W2022891079 cites W1757382290 @default.
- W2022891079 cites W1761155586 @default.
- W2022891079 cites W18144629 @default.
- W2022891079 cites W1876590017 @default.
- W2022891079 cites W1884093662 @default.
- W2022891079 cites W1963498758 @default.
- W2022891079 cites W1967112165 @default.
- W2022891079 cites W1967142924 @default.
- W2022891079 cites W1967660446 @default.
- W2022891079 cites W1967829523 @default.
- W2022891079 cites W1968349206 @default.
- W2022891079 cites W1969479602 @default.
- W2022891079 cites W1969890668 @default.
- W2022891079 cites W1970047246 @default.
- W2022891079 cites W1970821962 @default.
- W2022891079 cites W1974359647 @default.
- W2022891079 cites W1975182596 @default.
- W2022891079 cites W1975349829 @default.
- W2022891079 cites W1975545686 @default.
- W2022891079 cites W1975578189 @default.
- W2022891079 cites W1975921630 @default.
- W2022891079 cites W1977246689 @default.
- W2022891079 cites W1977277003 @default.
- W2022891079 cites W1977877153 @default.
- W2022891079 cites W1979216037 @default.
- W2022891079 cites W1979609107 @default.
- W2022891079 cites W1979742208 @default.
- W2022891079 cites W1979973085 @default.
- W2022891079 cites W1980162202 @default.
- W2022891079 cites W1981387155 @default.
- W2022891079 cites W1981786511 @default.
- W2022891079 cites W1983464098 @default.
- W2022891079 cites W1984143997 @default.
- W2022891079 cites W1984841297 @default.
- W2022891079 cites W1986343208 @default.
- W2022891079 cites W1987820478 @default.
- W2022891079 cites W1987899420 @default.
- W2022891079 cites W1990387678 @default.
- W2022891079 cites W1991439335 @default.
- W2022891079 cites W1991532241 @default.
- W2022891079 cites W1991552631 @default.
- W2022891079 cites W1992603978 @default.
- W2022891079 cites W1992767218 @default.
- W2022891079 cites W1992795339 @default.
- W2022891079 cites W1993068092 @default.
- W2022891079 cites W1994216506 @default.
- W2022891079 cites W1994263020 @default.
- W2022891079 cites W1995411277 @default.
- W2022891079 cites W1995749899 @default.
- W2022891079 cites W1997257842 @default.
- W2022891079 cites W1998389335 @default.
- W2022891079 cites W1999643045 @default.
- W2022891079 cites W1999755032 @default.
- W2022891079 cites W2000838235 @default.
- W2022891079 cites W2001491246 @default.
- W2022891079 cites W2001527927 @default.
- W2022891079 cites W2002938954 @default.
- W2022891079 cites W2002982587 @default.
- W2022891079 cites W2003743371 @default.
- W2022891079 cites W2004582507 @default.
- W2022891079 cites W2005015183 @default.
- W2022891079 cites W2005144914 @default.
- W2022891079 cites W2006977540 @default.
- W2022891079 cites W2007471517 @default.
- W2022891079 cites W2007934656 @default.
- W2022891079 cites W2008039653 @default.
- W2022891079 cites W2010307662 @default.
- W2022891079 cites W2010360201 @default.
- W2022891079 cites W2010591695 @default.
- W2022891079 cites W2011445581 @default.
- W2022891079 cites W2011523966 @default.