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Journal Abstract Search

229 related items for PubMed ID: 20052765

  • 1. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
    Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A.
    Hum Mutat; 2010 Mar; 31(3):356-65. PubMed ID: 20052765
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  • 2. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
    Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O.
    Neurobiol Dis; 2004 Jun; 16(1):29-40. PubMed ID: 15207259
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  • 5. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE, Mitchison HM, Munroe PB.
    Hum Mutat; 1999 Jun; 14(3):199-215. PubMed ID: 10477428
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  • 6. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
    Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K.
    Neurology; 2010 Feb 16; 74(7):565-71. PubMed ID: 20157158
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  • 7. Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy.
    Hughes SM, Hope KM, Xu JB, Mitchell NL, Palmer DN.
    Neurobiol Dis; 2014 Feb 16; 62():543-50. PubMed ID: 24269732
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  • 8. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
    Isosomppi J, Vesa J, Jalanko A, Peltonen L.
    Hum Mol Genet; 2002 Apr 15; 11(8):885-91. PubMed ID: 11971870
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  • 10. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
    Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN.
    Genomics; 2005 Sep 15; 86(3):287-94. PubMed ID: 16033706
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  • 12. Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
    Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A.
    J Neurosci Res; 2004 Jun 15; 76(6):862-71. PubMed ID: 15160397
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  • 13. CLN5 is cleaved by members of the SPP/SPPL family to produce a mature soluble protein.
    Jules F, Sauvageau E, Dumaresq-Doiron K, Mazzaferri J, Haug-Kröper M, Fluhrer R, Costantino S, Lefrancois S.
    Exp Cell Res; 2017 Aug 01; 357(1):40-50. PubMed ID: 28442266
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  • 15. Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
    Klockars T, Savukoski M, Isosomppi J, Peltonen L.
    Mol Genet Metab; 1999 Apr 01; 66(4):324-8. PubMed ID: 10191122
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  • 17. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
    Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.
    Clin Genet; 2005 Aug 01; 68(2):167-73. PubMed ID: 15996215
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  • 19. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.
    Hum Mutat; 2003 May 01; 21(5):502-8. PubMed ID: 12673792
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