1998
DOI: 10.1093/hmg/7.1.85
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Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease

Abstract: Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. To elucidate the biosynthesis and localization of the CLN3 protein, we expressed CLN3 cDNA in COS-1 and HeLa cell lines. In vitro translation, immunoprecipitation and Western blotting analyses detected an approximately 43 kDa polypeptide. Pulse-chase experiments indicated that the CLN3 p… Show more

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Cited by 175 publications
(110 citation statements)
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“…CLN2 codes for a lysosomal pepstatin-insensitive acid protease that is deficient in LINCL patients (38); the gene product of CLN3 is a lysosomal membrane protein of unknown function (39)(40)(41). LINCL and JNCL differ from INCL in the age of onset and severity of symptoms, and by differences in morphology of the lysosomal storage material (granular osmiophilic deposits in INCL, curvilinear inclusions in LINCL, and fingerprint inclusions in JNCL).…”
Section: Molecular Basis For Nclmentioning
confidence: 99%
“…CLN2 codes for a lysosomal pepstatin-insensitive acid protease that is deficient in LINCL patients (38); the gene product of CLN3 is a lysosomal membrane protein of unknown function (39)(40)(41). LINCL and JNCL differ from INCL in the age of onset and severity of symptoms, and by differences in morphology of the lysosomal storage material (granular osmiophilic deposits in INCL, curvilinear inclusions in LINCL, and fingerprint inclusions in JNCL).…”
Section: Molecular Basis For Nclmentioning
confidence: 99%
“…The NCLs are inherited in an autosomal recessive manner and six human NCL genes have now been identified (International Batten Disease Consortium, 1995;Gao et al, 2002;Ranta et al, 1999;Savukoski et al, 1998;Sleat et al, 1997;Vesa et al, 1995;Vines et al, 1999;Wheeler et al, 2002). Despite a common cellular phenotype of disturbed lysosomal function, not all of the proteins causing NCL are located in this organelle (Heine et al, 2004;Isosomppi et al, 2002;Järvelä et al, 1999;Järvelä et al, 1998;Lonka et al, 2000;Lonka et al, 2004;Mole et al, 2004;Ranta et al, 2004).…”
Section: Introductionmentioning
confidence: 99%
“…CLN3 encodes a 438 amino acid membrane protein that is glycosylated (Ezaki et al, 2003), phosphorylated (Michalewski et al, 1998;Michalewski et al, 1999) and probably farnesylated Pullarkat et al, 1997). It is located in the endosome-lysosome membrane and in neuronal cells is additionally associated with synaptosomes and microvesicles (Ezaki et al, 2003;Haskell et al, 2000;Järvelä et al, 1999;Järvelä et al, 1998;Kyttälä et al, 2003;Luiro et al, 2001). Two targeting motifs for lysosomal location have been identified (Kyttälä et al, 2003;Kyttälä et al, 2005;Storch et al, 2004).…”
Section: Introductionmentioning
confidence: 99%
“…Each of the three identified proteins whose deficiency results in NCL are localized within the lysosome [4,[6][7][8][9]. Whereas the CLN3 protein seems to be a transmembrane lysosomal protein [5,10], the CLN2 protease and palmitoyl-protein thioesterase are soluble lysosomal enzymes.…”
Section: Introductionmentioning
confidence: 99%