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Journal Abstract Search

124 related items for PubMed ID: 24038957

  • 1. Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
    Larkin H, Ribeiro MG, Lavoie C.
    Hum Mutat; 2013 Dec; 34(12):1688-97. PubMed ID: 24038957
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  • 3. 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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  • 4. Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium.
    Huber RJ, Mathavarajah S.
    Cell Signal; 2018 Jan; 42():236-248. PubMed ID: 29128403
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  • 5. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
    Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF.
    Exp Cell Res; 2004 Aug 15; 298(2):399-406. PubMed ID: 15265688
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  • 6. 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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  • 8. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
    De Silva B, Adams J, Lee SY.
    Exp Cell Res; 2015 Oct 15; 338(1):45-53. PubMed ID: 26342652
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  • 9. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
    Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A.
    Neurology; 2005 Feb 22; 64(4):740-2. PubMed ID: 15728307
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  • 10. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
    Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.
    Hum Mutat; 2009 May 22; 30(5):E651-61. PubMed ID: 19309691
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  • 12. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
    Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.
    BMC Cell Biol; 2009 Nov 26; 10():83. PubMed ID: 19941651
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  • 14. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
    Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.
    Mol Genet Metab; 2019 May 26; 127(1):107-115. PubMed ID: 31101435
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  • 15. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.
    Nat Genet; 1998 Jul 26; 19(3):286-8. PubMed ID: 9662406
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  • 20. Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.
    Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A.
    Int J Mol Sci; 2017 May 01; 18(5):. PubMed ID: 28468312
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