ゴーシェ病のケミカル・シャペロン。
by 鳥取大学 医学部 脳神経小児科学 大野耕策氏
by 鳥取大学 医学部 脳神経小児科学 大野耕策氏
正常圧水頭症はCongenital Disorders of Glycosylationか？トランスフェリンはどうなっているんだ。
タンパク質のシャペロンという意味とは違う。
Congenital disorders of Glycosylation
変なシアル酸。300例くらい診断。
Nomenclature of CDGS: Carbohydrate-deficient glycoprotein syndrome
糖タンパク質、糖脂質の糖鎖合成異常。
CDG-Ia: おしりの脂肪が変。生まれてくるときから変。
脳卒中様エピソード。
胸椎後弯、四肢筋萎縮、成長障害。
変なシアル酸。300例くらい診断。
Nomenclature of CDGS: Carbohydrate-deficient glycoprotein syndrome
糖タンパク質、糖脂質の糖鎖合成異常。
CDG-Ia: おしりの脂肪が変。生まれてくるときから変。
脳卒中様エピソード。
胸椎後弯、四肢筋萎縮、成長障害。
小脳失調、
Protein C, Protein S, AT 血中濃度が下がっている。
小脳の皺が目立つ。
CDG-1の異常トランスフェリン。disial transferrine, asial-transferrine,
N-glycosylation disorders
O-glycosilation disorders
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which N-glycosylation of a variety of tissue proteins is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants.
O-glycosilation disorders
Multiple exostosis
ウィキペディアからコピペA congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which N-glycosylation of a variety of tissue proteins is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants.
陥没乳頭
脳の奇形（ダンディーウォーカー）
多臓器不全
脳症、肝不全、
脳の奇形（ダンディーウォーカー）
多臓器不全
脳症、肝不全、
alpha-dystroglycan
Cutis Laxa, partial pachygyria, microcephaly
Abnormal gluteal fat and cutis laxa
大泉門拡大
Pachygyria: ノン福山の。。。
O-mannosylationの異常
大泉門拡大
Pachygyria: ノン福山の。。。
O-mannosylationの異常
N-glycan and O-glycan abnormality
トランスフェリンのとう
ApoC-IIIの等電点泳動。
ApoC-IIIの等電点泳動。
CDG-Ia, -Ib, -Ix, -IIx.
山下克子氏
Chemical chaperoneに関する論文の要旨をコピペ。
Small molecules are proposed as potential drugs for the treatment of lysosomal storage disorders (LSDs) such as Fabry disease and Gaucher disease, which are caused by deficiencies in lysosomal enzymes. Certain mutations in the disease-causing enzymes result in the synthesis of improperly folded proteins that are retarded in the endoplasmic reticulum (ER) and degraded by ER-associated degradation. However, these proteins might be enzymatically active if they could be transported properly to lysosomes. At sub-inhibitory concentrations, potent competitive inhibitors of the mutant enzymes can act as active-site-specific chaperones that either induce or stabilize the proper conformation of the mutant enzyme. This promotes normal trafficking through the secretory pathway of the ER and, ultimately, increases enzyme activity in lysosomes. This therapeutic strategy, of using functional chemicals as pharmacological chaperones, could be applied broadly to other LSDs and genetic metabolic diseases that are caused by misfolding of mutant proteins.
Small molecules are proposed as potential drugs for the treatment of lysosomal storage disorders (LSDs) such as Fabry disease and Gaucher disease, which are caused by deficiencies in lysosomal enzymes. Certain mutations in the disease-causing enzymes result in the synthesis of improperly folded proteins that are retarded in the endoplasmic reticulum (ER) and degraded by ER-associated degradation. However, these proteins might be enzymatically active if they could be transported properly to lysosomes. At sub-inhibitory concentrations, potent competitive inhibitors of the mutant enzymes can act as active-site-specific chaperones that either induce or stabilize the proper conformation of the mutant enzyme. This promotes normal trafficking through the secretory pathway of the ER and, ultimately, increases enzyme activity in lysosomes. This therapeutic strategy, of using functional chemicals as pharmacological chaperones, could be applied broadly to other LSDs and genetic metabolic diseases that are caused by misfolding of mutant proteins.
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