Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis
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 mechani...
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| Veröffentlicht in: | Cellular and molecular life sciences : CMLS 2020-09, Vol.77 (17), p.3311-3323 |
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| creator | Ruffin, Manon Mercier, Julia Calmel, Claire Mésinèle, Julie Bigot, Jeanne Sutanto, Erika N. Kicic, Anthony Corvol, Harriet Guillot, Loic |
| description | 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. |
| doi_str_mv | 10.1007/s00018-020-03487-x |
| format | Article |
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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
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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. 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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
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| language | eng |
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| source | MEDLINE; SpringerLink Journals; PubMed Central |
| subjects | Amino Acid Transport Systems - genetics Amino Acid Transport Systems - metabolism Amino acids Arginine Biochemistry Biomedical and Life Sciences Biomedicine Cell Biology Colonic Diseases - genetics Colonic Diseases - metabolism Colonic Diseases - pathology Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis - metabolism Cystic Fibrosis - pathology Cytoplasm Disease Gastrointestinal Tract - metabolism Genetic Variation Human health and pathology Humans Hépatology and Gastroenterology Imports Intestine Life Sciences Linkage Disequilibrium Lung - metabolism Lung diseases Lysine Meconium Neoplasms - genetics Neoplasms - metabolism Neoplasms - pathology Phenotypes Physiology Review Severity of Illness Index |
| title | Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis |
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