Literature DB >> 2688743

Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts.

E J Blanchette Mackie1, N K Dwyer, M T Vanier, J Sokol, H F Merrick, M E Comly, C E Argoff, P G Pentchev.   

Abstract

Biochemical and cytochemical studies have revealed that abnormal processing of low-density-lipoprotein (LDL) cholesterol can be reversed in mutant Niemann-Pick C (NP-C) fibroblasts when 2% dimethyl sulfoxide (DMSO) is added to the culture medium. Both the excessive lysosomal accumulation of LDL cholesterol and the delayed induction of cellular homeostatic responses associated with the uptake of LDL by the mutant cells were substantially reversed by DMSO. DMSO appears to accelerate the intracellular mobilization of LDL-derived cholesterol through effects that may reflect enhanced membrane permeability or cholesterol solubilization.

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Year:  1989        PMID: 2688743     DOI: 10.1016/0005-2760(89)90200-2

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  2 in total

1.  Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.

Authors:  S J Steinberg; D Mondal; A H Fensom
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.

Authors:  Antony Cougnoux; Julia C Yerger; Mason Fellmeth; Jenny Serra-Vinardell; Fatemeh Navid; Christopher A Wassif; Niamh X Cawley; Forbes D Porter
Journal:  Mol Genet Metab       Date:  2021-11-16       Impact factor: 4.797

  2 in total

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