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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第100巻第12号

7) シアリドーシスの臨床と生化学(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)

http://hdl.handle.net/10191/35752
http://hdl.handle.net/10191/35752
2149e686-e931-46c6-8269-36b9d9c103b0
名前 / ファイル ライセンス アクション
100(12)_745-750.pdf 100(12)_745-750.pdf (514.4 kB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2015-12-16
タイトル
タイトル 7) シアリドーシスの臨床と生化学(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)
タイトル
言語 en
タイトル 7) シアリドーシスの臨床と生化学(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)
言語
言語 jpn
キーワード
主題Scheme Other
主題 sialidosis
キーワード
主題Scheme Other
主題 galactosialidosis
キーワード
主題Scheme Other
主題 sialidase
キーワード
主題Scheme Other
主題 シアリドーシス
キーワード
主題Scheme Other
主題 ガラクトシアリドーシス
キーワード
主題Scheme Other
主題 シアリダーゼ
キーワード
主題Scheme Other
主題 β-ガラクトシダーゼ
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
その他のタイトル
その他のタイトル Clinical and biochemical aspects of sialidosis(Hereditary Spinocerebellar Degeneration : recent advances)
著者 西澤, 正豊

× 西澤, 正豊

WEKO 145760

西澤, 正豊

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著者別名
識別子 145761
識別子Scheme WEKO
姓名 Nishizawa, Masatoyo
抄録
内容記述タイプ Abstract
内容記述 A deficiency of lysosomal sialidase has recently been identified among a group of disorders which had been classified clinically as Ramsay Hunt syndrome, or myoclonic epilepsy. Biochemically, they were separated into two groups: isolated sialidase deficiency and galactosialidosis(sialidosis with partial β-galactosidase deficiency). Galactosialidosis is a hereditary disorder of juvenile onset, inherited as an autosomal recessive trait. Most of the cases are Japanese. Characteristic clinical features consist of mild dementia, cherry-red spot, myoclonus, cerebellar ataxia, convulsive seizures, angiokeratoma, and vertebral dysplasia. There has been found combined deficiency of lysosomal β-galactosidase and sialidase. Urinary excretion of sialyloligosaceharides is markedly increased. The molecular defect of the disease has been extensively studied by Galjaard et al. According to them, a glycoprotein of Mr. 32 kDa, which is necessary for β-galactosidase monomer to be stabilized by making stable polymer, is defective in galactosialidosis, resulting in rapid degradation of β-galactosidase monomer by lysosomal proteases. On the other hand, Miyatake et al. have examined the subcellular distribution of sialidases and found that sialidase, localized in lysosome fraction and specific for sialyloligosaccharides, is deficient in lymphocytes obtained from galactogialidosis patients. The precise molecular mechanism of sialidase deficiency in this disease remains to be clarified.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 100, 号 12, p. 745-750, 発行日 1986-12
出版者
出版者 新潟医学会
ISSN
収録物識別子タイプ ISSN
収録物識別子 00290440
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00182415
著者版フラグ
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