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Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis.
Cellular and Molecular Life Sciences ( IF 6.2 ) Pub Date : 2020-03-12 , DOI: 10.1007/s00018-020-03487-x
Manon Ruffin 1 , Julia Mercier 1 , Claire Calmel 1 , Julie Mésinèle 1 , Jeanne Bigot 1 , Erika N Sutanto 2, 3 , Anthony Kicic 2, 3, 4, 5 , Harriet Corvol 1, 6 , Loic Guillot 1
Affiliation  

The solute carrier family 6 member 14 (SLC6A14) protein imports and concentrates all neutral amino acids as well as the two cationic acids lysine and arginine into the cytoplasm of different cell types. Primarily described as involved in several cancer and colonic diseases physiopathological mechanisms, the SLC6A14 gene has been more recently identified as a genetic modifier of cystic fibrosis (CF) disease severity. It was indeed shown to have a pleiotropic effect, modulating meconium ileus occurrence, lung disease severity, and precocity of P. aeruginosa airway infection. The biological mechanisms explaining the impact of SLC6A14 on intestinal and lung phenotypes of CF patients are starting to be elucidated. This review focuses on SLC6A14 in lung and gastrointestinal physiology and physiopathology, especially its involvement in the pathophysiology of CF disease.



中文翻译:


SLC6A14 在肺和胃肠道生理学和病理生理学中的最新进展:关注囊性纤维化。



溶质载体家族 6 成员 14 (SLC6A14) 蛋白将所有中性氨基酸以及两种阳离子酸赖氨酸和精氨酸导入并浓缩到不同细胞类型的细胞质中。 SLC6A14基因最初被描述为参与多种癌症和结肠疾病的病理生理机制,最近被确定为囊性纤维化 (CF) 疾病严重程度的遗传修饰因子。它确实被证明具有多效性,可以调节胎便性肠梗阻的发生、肺部疾病的严重程度以及铜绿假单胞菌气道感染的早熟。解释 SLC6A14 对 CF 患者肠道和肺表型影响的生物学机制正开始得到阐明。本综述重点关注SLC6A14在肺和胃肠道生理学和病理生理学中的作用,特别是其在CF疾病病理生理学中的参与。

更新日期:2020-03-12
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