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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/22 01:27:01」(JST)

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  • The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice.
  • Luan Z, Li L, Higaki K, Nanba E, Suzuki Y, Ohno K.SourceDivision of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan. Electronic address: nicholasluan@gmail.com.
  • Brain & development.Brain Dev.2013 Apr;35(4):317-22. doi: 10.1016/j.braindev.2012.05.008. Epub 2012 Jun 7.
  • Gaucher disease (GD), caused by a defect of acid β-glucosidase (β-Glu), is one of the most common sphingolipidoses. Recently, ambroxol, an FDA-approved drug used to treat airway mucus hypersecretion and hyaline membrane disease in newborns, was identified as a chemical chaperone for GD. In the pre
  • PMID 22682976
  • Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease.
  • Pereira CS, Azevedo O, Maia ML, Dias AF, Sa-Miranda C, Macedo MF.SourceLysosome and Peroxisome Biology Unit (UniLiPe), IBMC - Instituto de Biologia Molecular e Celular, Universidade do Porto, Rua do Campo Alegre nº 823, 4150-180, Porto, Portugal. Electronic address: cspereira@ibmc.up.pt.
  • Molecular genetics and metabolism.Mol Genet Metab.2013 Apr;108(4):241-8. doi: 10.1016/j.ymgme.2013.01.018. Epub 2013 Feb 1.
  • Fabry disease is a lysosomal storage disease belonging to the group of sphingolipidoses. In Fabry disease there is accumulation of mainly globotriaosylceramide due to deficiency of the lysosomal enzyme α-galactosidase A. The lysosome is an important compartment for the activity of invariant natural
  • PMID 23433711
  • The sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells.
  • Martin ML, Liebisch G, Lehneis S, Schmitz G, Alonso-Sande M, Bestard-Escalas J, Lopez DH, Garcia-Verdugo JM, Soriano-Navarro M, Busquets X, Escriba PV, Barcelo-Coblijn G.SourceMemorial Sloan-Kettering Cancer Center, United States;
  • Journal of lipid research.J Lipid Res.2013 Mar 7. [Epub ahead of print]
  • The mechanism of action of 2-hydroxyoleic acid (2OHOA), a potent antitumor drug, involves the rapid and specific activation of sphingomyelin synthase (SMS), leading to a 4-fold increase in SM mass in tumor cells. In the present study, we investigated the source of the ceramides required to sustain t
  • PMID 23471028


  • Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients
  • 実地医家のためのゴーシェ病の知識
  • Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients
  • Journal of chromatography. B, Biomedical sciences and applications 731(1), 45-52, 1999-08-06
  • NAID 10024539125


Sphingolipidosis information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Sphingolipidosis: Introduction Sphingolipidosis: A group of diseases ...
sphingolipidosis sphin·go·lip·i·do·sis (sfĭng'gō-lĭp'ĭ-dō'sĭs) n. Any of various diseases, such as gangliosidosis or Gaucher's disease, characterized by abnormal sphingolipid metabolism. Also called sphingolipodystrophy.



リンク元sphingolipid storage disease




  • βヘキソサミニダーゼα鎖欠損症
  • βヘキソサミニダーゼβ鎖欠損症 Sandhoff病
  • 活性化蛋白欠損症
Disease Enzyme Deficiency Lipid Accumulating Clinical Symptoms
Tay-Sachs disease Hexosaminidase A Cer-Glc-Gal(NeuAc)-: : GalNAc
GM2 Ganglioside
Mental retardation, blindness, muscular weakness.
Fabry's disease α-Galactosidase Cer-Glc-Gal-: : Gal
Skin rash, kidney failure (full symptoms only in males; X-linked recessive).
Metachromatic leukodystrophy Arylsulfatase A Cer-Gal-: : OSO3
Mental retardation and psychologic disturbances in adults; demyelination.
Krabbe's disease β-Galactosidase Cer-: : Gal
Mental retardation; myelin almost absent.
Gaucher's disease β-Glucosidase Cer-: : Glc
Enlarged liver and spleen, erosion of long bones, mental retardation in infants.
Niemann-Pick disease Sphingomyelinase Cer-: : P-choline
Enlarged liver and spleen, mental retardation; fatal in early life.
Farber's disease Ceramidase Acyl-: : Sphingosine
Hoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life.

sphingolipid storage disease」