Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A

[1]  J. Fernandez-Checa,et al.  Acid ceramidase improves mitochondrial function and oxidative stress in Niemann-Pick type C disease by repressing STARD1 expression and mitochondrial cholesterol accumulation , 2021, Redox biology.

[2]  A. Colell,et al.  Upregulation of brain cholesterol levels inhibits mitophagy in Alzheimer disease , 2021, Autophagy.

[3]  Olga Tanaseichuk,et al.  Metascape provides a biologist-oriented resource for the analysis of systems-level datasets , 2019, Nature Communications.

[4]  A. Futerman,et al.  The brain lipidome in neurodegenerative lysosomal storage disorders. , 2018, Biochemical and biophysical research communications.

[5]  A. Whitworth,et al.  The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC and Fly Models of Parkinson's Disease. , 2018, Cell reports.

[6]  S. Duga,et al.  A lysosome‐plasma membrane‐sphingolipid axis linking lysosomal storage to cell growth arrest , 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[7]  D. Sinclair,et al.  Therapeutic Potential of NAD-Boosting Molecules: The In Vivo Evidence. , 2018, Cell metabolism.

[8]  S. Sonnino,et al.  Radioactive Gangliosides for Biological Studies. , 2018, Methods in molecular biology.

[9]  A. Rábano,et al.  Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann–Pick disease , 2017, Molecular Psychiatry.

[10]  W. Gahl,et al.  Lysosomal storage diseases , 2016, Translational science of rare diseases.

[11]  P. Elustondo,et al.  Mitochondrial cholesterol import. , 2017, Biochimica et biophysica acta. Molecular and cell biology of lipids.

[12]  E. Schuchman,et al.  Types A and B Niemann-Pick Disease. , 2016, Pediatric endocrinology reviews : PER.

[13]  D. Medina,et al.  TFEB and the CLEAR network. , 2015, Methods in cell biology.

[14]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[15]  T. Valero.  Mitochondrial biogenesis: pharmacological approaches. , 2014, Current pharmaceutical design.

[16]  P. Boya,et al.  High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A , 2014, Cell Death and Differentiation.

[17]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[18]  N. Loberto,et al.  Cell surface sphingolipid glycohydrolases in neuronal differentiation and aging in culture , 2011, Journal of neurochemistry.

[19]  S. Walkley,et al.  Secondary lipid accumulation in lysosomal disease. , 2009, Biochimica et biophysica acta.

[20]  M. Piccinini,et al.  Alterations of myelin‐specific proteins and sphingolipids characterize the brains of acid sphingomyelinase‐deficient mice, an animal model of Niemann–Pick disease type A , 2009, Journal of neurochemistry.

[21]  E. Schuchman,et al.  Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice , 2008, Journal of neurochemistry.

[22]  M. Elleder,et al.  Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study , 2005, Virchows Archiv.

[23]  M. Michikawa,et al.  Altered Cholesterol Metabolism in Niemann-Pick Type C1 Mouse Brains Affects Mitochondrial Function* , 2005, Journal of Biological Chemistry.

[24]  S. Sonnino,et al.  Sphingolipid Uptake by Cultured Cells COMPLEX AGGREGATES OF CELL SPHINGOLIPIDS WITH SERUM PROTEINS AND LIPOPROTEINS ARE RAPIDLY CATABOLIZED* , 2005 .

[25]  H. Fujita,et al.  [Lysosomal storage disease]. , 2004, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.

[26]  D. Perl,et al.  Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease , 1995, Nature Genetics.

[27]  S. Hakomori,et al.  A facile and regiospecific tritiation of sphingosine: Synthesis of (2S,3R,4E)‐2‐amino‐4‐octadecene‐1,3‐diol‐1‐3H , 1991 .

[28]  R. Brady,et al.  The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. , 1966, Proceedings of the National Academy of Sciences of the United States of America.