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Journal Abstract Search

142 related items for PubMed ID: 15207259

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  • 2. 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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  • 6. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
    Pohl S, Mitchison HM, Kohlschütter A, van Diggelen O, Braulke T, Storch S.
    J Neurochem; 2007 Dec; 103(6):2177-88. PubMed ID: 17868323
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  • 7. 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; 86(3):287-94. PubMed ID: 16033706
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  • 8. Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.
    Fabritius AL, Vesa J, Minye HM, Nakano I, Kornblum H, Peltonen L.
    Exp Mol Pathol; 2014 Dec; 97(3):484-91. PubMed ID: 25303899
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  • 10. Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.
    Schmiedt ML, Blom T, Blom T, Kopra O, Wong A, von Schantz-Fant C, Ikonen E, Kuronen M, Jauhiainen M, Cooper JD, Jalanko A.
    Neurobiol Dis; 2012 Apr; 46(1):19-29. PubMed ID: 22182690
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  • 13. 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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  • 20. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
    Bessa C, Teixeira CA, Mangas M, Dias A, Sá Miranda MC, Guimarães A, Ferreira JC, Canas N, Cabral P, Ribeiro MG.
    Mol Genet Metab; 2006 Nov 15; 89(3):245-53. PubMed ID: 16814585
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