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Journal Abstract Search

210 related items for PubMed ID: 19309691

  • 1. 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; 30(5):E651-61. PubMed ID: 19309691
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  • 2. 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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  • 3. Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
    Wang Y, Wang H, Wang C.
    Autophagy; 2023 Jun 26; 19(6):1876-1878. PubMed ID: 36368077
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  • 4. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
    Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.
    J Neurol; 2003 Jun 26; 250(6):661-7. PubMed ID: 12796825
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  • 6. 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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  • 7. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
    Kousi M, Lehesjoki AE, Mole SE.
    Hum Mutat; 2012 Jan 15; 33(1):42-63. PubMed ID: 21990111
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  • 9. An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect.
    Qureshi YH, Patel VM, Berman DE, Kothiya MJ, Neufeld JL, Vardarajan B, Tang M, Reyes-Dumeyer D, Lantigua R, Medrano M, Jiménez-Velázquez IJ, Small SA, Reitz C.
    Mol Cell Biol; 2018 Oct 15; 38(20):. PubMed ID: 30037983
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  • 13. 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 15; 31(3):356-65. PubMed ID: 20052765
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  • 14. The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
    Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J.
    Neuromolecular Med; 2019 Jun 15; 21(2):160-169. PubMed ID: 30919163
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  • 16. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
    Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I.
    Biochim Biophys Acta; 2006 Oct 15; 1762(10):890-7. PubMed ID: 16935476
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  • 19. Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.
    Huber RJ.
    J Biomed Sci; 2016 Nov 24; 23(1):83. PubMed ID: 27881166
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  • 20. 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 24; 127(1):107-115. PubMed ID: 31101435
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