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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク TRIANGLE disease ： ウィキペディア英語版 TRIANGLE disease TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where ''TPP2'' is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su〔(Dr. Helen C. Su ) www.niaid.nih.gov, retrieved 26 September 2015〕 from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton〔(Dr. Sophie Hambleton ) www.ncl.ac.uk, retrieved 26 September 2015〕 from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al. ==Genetics and function== TRIANGLE disease is caused by loss-of-function mutations in the gene ''TPP2'', which stands for tripeptidyl peptidase II. ''TPP2'' maps to human chromosome 13q32-q33, has 32 exons, and encodes for a 1249 amino acid protein. The genetic model for this disease is loss-of-function. This means that for people with TRIANGLE disease, the gene ''TPP2'' is unable to produce protein or produce functional protein. Functionally, TPPII has a key role in recycling amino acids, which are protein building blocks, a fundamental cellular process. Although the body can use alternative amino acid recycling pathways to compensate for loss of TPPII, the up-regulation of alternative pathways can cause new cellular abnormalities in itself with subsequent effects on glycolysis, adaptive immunity, and innate immunity. Consequently, individuals without functioning TPPII have severe disease.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「TRIANGLE disease」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.