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Journal Abstract Search

244 related items for PubMed ID: 29580926

  • 1. 19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.
    Zhao K, van der Spoel A, Castiglioni C, Gale S, Fujiwara H, Ory DS, Ridgway ND.
    Biochim Biophys Acta Mol Basis Dis; 2018 Jun; 1864(6 Pt A):2108-2118. PubMed ID: 29580926
    [Abstract] [Full Text] [Related]

  • 2. Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor.
    Burkhardt JK, Hüttler S, Klein A, Möbius W, Habermann A, Griffiths G, Sandhoff K.
    Eur J Cell Biol; 1997 May; 73(1):10-8. PubMed ID: 9174667
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  • 3. Sphingolipids and neuronal degeneration in lysosomal storage disorders.
    Grassi S, Chiricozzi E, Mauri L, Sonnino S, Prinetti A.
    J Neurochem; 2019 Mar; 148(5):600-611. PubMed ID: 29959861
    [Abstract] [Full Text] [Related]

  • 4. A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest.
    Samarani M, Loberto N, Soldà G, Straniero L, Asselta R, Duga S, Lunghi G, Zucca FA, Mauri L, Ciampa MG, Schiumarini D, Bassi R, Giussani P, Chiricozzi E, Prinetti A, Aureli M, Sonnino S.
    FASEB J; 2018 Oct; 32(10):5685-5702. PubMed ID: 29746165
    [Abstract] [Full Text] [Related]

  • 5. Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases.
    Sellin J, Schulze H, Paradis M, Gosejacob D, Papan C, Shevchenko A, Psathaki OE, Paululat A, Thielisch M, Sandhoff K, Hoch M.
    Dis Model Mech; 2017 Jun 01; 10(6):737-750. PubMed ID: 28389479
    [Abstract] [Full Text] [Related]

  • 6. Sphingolipids and lysosomal pathologies.
    Schulze H, Sandhoff K.
    Biochim Biophys Acta; 2014 May 01; 1841(5):799-810. PubMed ID: 24184515
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  • 8. N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
    García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R.
    Mov Disord; 2017 Oct 01; 32(10):1409-1422. PubMed ID: 28779532
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  • 10. Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts.
    Berzina Z, Solanko LM, Mehadi AS, Jensen MLV, Lund FW, Modzel M, Szomek M, Solanko KA, Dupont A, Nielsen GK, Heegaard CW, Ejsing CS, Wüstner D.
    Chem Phys Lipids; 2018 Jul 01; 213():48-61. PubMed ID: 29580834
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  • 13. Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation.
    Syrjä P, Anwar T, Jokinen T, Kyöstilä K, Jäderlund KH, Cozzi F, Rohdin C, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Sukura A, Leeb T, Lohi H, Eskelinen EL.
    Vet Pathol; 2017 Nov 01; 54(6):953-963. PubMed ID: 28583040
    [Abstract] [Full Text] [Related]

  • 14. A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.
    Rappaport J, Manthe RL, Solomon M, Garnacho C, Muro S.
    Mol Pharm; 2016 Feb 01; 13(2):357-368. PubMed ID: 26702793
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  • 15. Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.
    Tancini B, Magini A, Latterini L, Urbanelli L, Ciccarone V, Elisei F, Emiliani C.
    Mol Cell Biochem; 2010 Feb 01; 335(1-2):273-82. PubMed ID: 19823769
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  • 16. Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases.
    Marques ARA, Saftig P.
    J Cell Sci; 2019 Jan 16; 132(2):. PubMed ID: 30651381
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  • 17. Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects.
    Pacheco CD, Kunkel R, Lieberman AP.
    Hum Mol Genet; 2007 Jun 15; 16(12):1495-503. PubMed ID: 17468177
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  • 18. [14C]Methylamine accumulation in cultured human skin fibroblasts--a biochemical test for lysosomal storage and lysosomal diseases.
    Kopitz J, Gerhard C, Höfler P, Cantz M.
    Clin Chim Acta; 1994 Jun 15; 227(1-2):121-33. PubMed ID: 7955409
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  • 19. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.
    Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A.
    EMBO J; 2010 Nov 03; 29(21):3607-20. PubMed ID: 20871593
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  • 20. Association of ACAT1-positive vesicles with late endosomes/ lysosomes in cholesterol-rich human macrophages.
    Lei X, Fujiwara Y, Chang CC, Chang TY, Takeya M, Sakashita N.
    J Atheroscler Thromb; 2010 Jul 30; 17(7):740-50. PubMed ID: 20523008
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