CLN6

CLN6

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant, also known as CLN6, is a human gene.cite web | title = Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54982| accessdate = ]

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References

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*cite journal | author=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133–40 |year= 2000 |pmid= 10740217 |doi=
*cite journal | author=Sharp JD, Wheeler RB, Lake BD, "et al." |title=Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 591–5 |year= 1997 |pmid= 9097964 |doi=
*cite journal | author=Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I |title=Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). |journal=Eur. J. Biochem. |volume=268 |issue= 22 |pages= 5851–6 |year= 2001 |pmid= 11722572 |doi=
*cite journal | author=Wheeler RB, Sharp JD, Schultz RA, "et al." |title=The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 537–42 |year= 2002 |pmid= 11727201 |doi=
*cite journal | author=Gao H, Boustany RM, Espinola JA, "et al." |title=Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 324–35 |year= 2002 |pmid= 11791207 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Teixeira CA, Espinola J, Huo L, "et al." |title=Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=21 |issue= 5 |pages= 502–8 |year= 2003 |pmid= 12673792 |doi= 10.1002/humu.10207
*cite journal | author=Sharp JD, Wheeler RB, Parker KA, "et al." |title=Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=22 |issue= 1 |pages= 35–42 |year= 2003 |pmid= 12815591 |doi= 10.1002/humu.10227
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Heine C, Koch B, Storch S, "et al." |title=Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. |journal=J. Biol. Chem. |volume=279 |issue= 21 |pages= 22347–52 |year= 2004 |pmid= 15010453 |doi= 10.1074/jbc.M400643200
*cite journal | author=Mole SE, Michaux G, Codlin S, "et al." |title=CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. |journal=Exp. Cell Res. |volume=298 |issue= 2 |pages= 399–406 |year= 2004 |pmid= 15265688 |doi= 10.1016/j.yexcr.2004.04.042
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Siintola E, Topcu M, Kohlschütter A, "et al." |title=Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. |journal=Clin. Genet. |volume=68 |issue= 2 |pages= 167–73 |year= 2005 |pmid= 15996215 |doi= 10.1111/j.1399-0004.2005.00471.x
*cite journal | author=Otsuki T, Ota T, Nishikawa T, "et al." |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117
*cite journal | author=Teixeira CA, Lin S, Mangas M, "et al." |title=Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. |journal=Biochim. Biophys. Acta |volume=1762 |issue= 7 |pages= 637–46 |year= 2006 |pmid= 16857350 |doi= 10.1016/j.bbadis.2006.06.002
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Heine C, Quitsch A, Storch S, "et al." |title=Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. |journal=Mol. Membr. Biol. |volume=24 |issue= 1 |pages= 74–87 |year= 2007 |pmid= 17453415 |doi= 10.1080/09687860600967317

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