lysosomal storage diseases

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/01/12 16:37:01」(JST)

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  • Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease.
  • Woś M1, Szczepanowska J1, Pikuła S1, Tylki-Szymańska A2, Zabłocki K1, Bandorowicz-Pikuła J3.
  • Archives of biochemistry and biophysics.Arch Biochem Biophys.2016 Mar 1;593:50-59. doi: 10.1016/ Epub 2016 Feb 8.
  • Mutations in the NPC1 or NPC2 genes lead to Niemann-Pick type C (NPC) disease, a rare lysosomal storage disorder characterized by progressive neurodegeneration. These mutations result in cholesterol and glycosphingolipid accumulation in the late endosomal/lysosomal compartment. Complications in the
  • PMID 26869201
  • EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
  • Byrne S1, Jansen L2, U-King-Im JM3, Siddiqui A3, Lidov HG4, Bodi I5, Smith L6, Mein R7, Cullup T8, Dionisi-Vici C9, Al-Gazali L10, Al-Owain M11, Bruwer Z12, Al Thihli K12, El-Garhy R13, Flanigan KM14, Manickam K15, Zmuda E15, Banks W15, Gershoni-Baruch R16, Mandel H17, Dagan E18, Raas-Rothschild A19, Barash H19, Filloux F20, Creel D21, Harris M22, Hamosh A23, Kölker S24, Ebrahimi-Fakhari D24, Hoffmann GF24, Manchester D25, Boyer PJ26, Manzur AY27, Lourenco CM28, Pilz DT29, Kamath A29, Prabhakar P30, Rao VK31, Rogers RC32, Ryan MM33, Brown NJ34, McLean CA35, Said E36, Schara U37, Stein A38, Sewry C39, Travan L40, Wijburg FA41, Zenker M42, Mohammed S43, Fanto M2, Gautel M6, Jungbluth H44.
  • Brain : a journal of neurology.Brain.2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.
  • Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Dr
  • PMID 26917586
  • Genetics of reflex seizures and epilepsies in humans and animals.
  • Italiano D1, Striano P2, Russo E3, Leo A3, Spina E1, Zara F4, Striano S5, Gambardella A6, Labate A6, Gasparini S7, Lamberti M1, De Sarro G3, Aguglia U8, Ferlazzo E9.
  • Epilepsy research.Epilepsy Res.2016 Mar;121:47-54. doi: 10.1016/j.eplepsyres.2016.01.010. Epub 2016 Feb 2.
  • INTRODUCTION: Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies.METHODS: References were mainly identified t
  • PMID 26875109


  • 血液脳関門とライソゾーム蓄積病治療 (特集 血液脳関門研究の進歩)
  • 浦山 昭彦
  • Brain and nerve : 神経研究の進歩 65(2), 153-163, 2013-02
  • NAID 40019588030
  • 細胞内分解性ポリロタキサンによるライソゾーム病治療
  • 田村 篤志,由井 伸彦
  • 生体材料工学研究所年報 47, 9-12, 2013
  • NAID 40020109633


More than 50 lysosomal storage diseases have been described. They are classified below, and a few are described in detail in the subsequent sections. Glycogen storage disease type II This glycogenosis is caused by ...
The lysosomal storage disorders (LSD) are a group of about 50 diseases that are characterised by an accumulation of waste products in the lysosomes, resulting in the formation of large intracellular vacuoles (fig. 1).






  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意

WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」



  • n.

WordNet   license wordnet

「(computer science) the process of storing information in a computer memory or on a magnetic tape or disk」

WordNet   license wordnet

「the act of storing something」

WordNet   license wordnet

「the commercial enterprise of storing goods and materials」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」



  • adj.
  • リソソームの、ライソソームの