CLN5
CLN5 (CLN5, intracellular trafficking protein) هوَ بروتين يُشَفر بواسطة جين CLN5 في الإنسان.[1][2][3]
الوظيفة
المراجع
- Savukoski M، Kestila M، Williams R، Jarvela I، Sharp J، Harris J، Santavuori P، Gardiner M، Peltonen L (أكتوبر 1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet. ج. 55 ع. 4: 695–701. PMC:1918303. PMID:7942847.
- "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". مؤرشف من الأصل في 2010-03-07.
- Klockars T، Savukoski M، Isosomppi J، Laan M، Jarvela I، Petrukhin K، Palotie A، Peltonen L (سبتمبر 1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics. ج. 35 ع. 1: 71–8. DOI:10.1006/geno.1996.0324. PMID:8661106.
قراءة متعمقة
- Mole SE، Mitchison HM، Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5". Hum. Mutat. ج. 14 ع. 3: 199–215. DOI:10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A. PMID:10477428.
- Dawson G، Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. ج. 60 ع. 2: 133–40. DOI:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID:10740217.
- Vesa J، Peltonen L (2003). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Curr. Mol. Med. ج. 2 ع. 5: 439–44. DOI:10.2174/1566524023362311. PMID:12125809.
- Mole SE (2004). "The genetic spectrum of human neuronal ceroid-lipofuscinoses". Brain Pathol. ج. 14 ع. 1: 70–6. DOI:10.1111/j.1750-3639.2004.tb00500.x. PMID:14997939.
- Carpenter S، Karpati G، Andermann F، وآخرون (1977). "The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease". Brain. 100 Pt 1: 137–56. DOI:10.1093/brain/100.1.137. PMID:193610.
- Savukoski M، Klockars T، Holmberg V، وآخرون (1998). "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis". Nat. Genet. ج. 19 ع. 3: 286–8. DOI:10.1038/975. PMID:9662406.
- Heinonen O، Salonen T، Jalanko A، وآخرون (2000). "CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain". J. Comp. Neurol. ج. 426 ع. 3: 406–12. DOI:10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5. PMID:10992246.
- Holopainen JM، Saarikoski J، Kinnunen PK، Järvelä I (2001). "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)". Eur. J. Biochem. ج. 268 ع. 22: 5851–6. DOI:10.1046/j.0014-2956.2001.02530.x. PMID:11722572.
- Isosomppi J، Vesa J، Jalanko A، Peltonen L (2003). "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein". Hum. Mol. Genet. ج. 11 ع. 8: 885–91. DOI:10.1093/hmg/11.8.885. PMID:11971870.
- Vesa J، Chin MH، Oelgeschläger K، وآخرون (2003). "Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3". Mol. Biol. Cell. ج. 13 ع. 7: 2410–20. DOI:10.1091/mbc.E02-01-0031. PMC:117323. PMID:12134079.
- Pineda-Trujillo N، Cornejo W، Carrizosa J، وآخرون (2005). "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset". Neurology. ج. 64 ع. 4: 740–2. DOI:10.1212/01.WNL.0000151974.44980.F1. PMID:15728307.
- Bessa C، Teixeira CA، Mangas M، وآخرون (2006). "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency". Mol. Genet. Metab. ج. 89 ع. 3: 245–53. DOI:10.1016/j.ymgme.2006.04.010. PMID:16814585.
- Ewing RM، Chu P، Elisma F، وآخرون (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. ج. 3 ع. 1: 89. DOI:10.1038/msb4100134. PMC:1847948. PMID:17353931.
- Cannelli N، Nardocci N، Cassandrini D، وآخرون (2007). "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis". Neuropediatrics. ج. 38 ع. 1: 46–9. DOI:10.1055/s-2007-981449. PMID:17607606.
بوابة الكيمياء الحيوية
بوابة طب
بوابة علم الأحياء الخلوي والجزيئي
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.