These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 15265688)

  • 1. 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; 298(2):399-406. PubMed ID: 15265688
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 76(6):862-71. PubMed ID: 15160397
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
    Heine C; Quitsch A; Storch S; Martin Y; Lonka L; Lehesjoki AE; Mole SE; Braulke T
    Mol Membr Biol; 2007; 24(1):74-87. PubMed ID: 17453415
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.
    Rusyn E; Mousallem T; Persaud-Sawin DA; Miller S; Boustany RM
    Pediatr Res; 2008 Jun; 63(6):625-31. PubMed ID: 18317235
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intracellular trafficking of the JNCL protein CLN3.
    Haskell RE; Derksen TA; Davidson BL
    Mol Genet Metab; 1999 Apr; 66(4):253-60. PubMed ID: 10191111
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
    Kurze AK; Galliciotti G; Heine C; Mole SE; Quitsch A; Braulke T
    Hum Mutat; 2010 Feb; 31(2):E1163-74. PubMed ID: 20020536
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 21(5):502-8. PubMed ID: 12673792
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
    Ambasudhan R; Wang X; Jablonski MM; Thompson DA; Lagali PS; Wong PW; Sieving PA; Ayyagari R
    Genomics; 2004 Apr; 83(4):615-25. PubMed ID: 15028284
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 10():83. PubMed ID: 19941651
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
    Salonen T; Heinonen-Kopra O; Vesa J; Jalanko A
    Mol Cell Neurosci; 2001 Aug; 18(2):131-40. PubMed ID: 11520175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE; Mitchison HM; Munroe PB
    Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
    Lonka L; Kyttälä A; Ranta S; Jalanko A; Lehesjoki AE
    Hum Mol Genet; 2000 Jul; 9(11):1691-7. PubMed ID: 10861296
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 68(2):167-73. PubMed ID: 15996215
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.
    Oresic K; Mueller B; Tortorella D
    Biosci Rep; 2009 Jun; 29(3):173-81. PubMed ID: 18811591
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.
    Shacka JJ
    Brain Res Bull; 2012 May; 88(1):43-57. PubMed ID: 22502604
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
    Cannelli N; Garavaglia B; Simonati A; Aiello C; Barzaghi C; Pezzini F; Cilio MR; Biancheri R; Morbin M; Dalla Bernardina B; Granata T; Tessa A; Invernizzi F; Pessagno A; Boldrini R; Zibordi F; Grazian L; Claps D; Carrozzo R; Mole SE; Nardocci N; Santorelli FM
    Biochem Biophys Res Commun; 2009 Feb; 379(4):892-7. PubMed ID: 19135028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.