Inducible
Amino Acid Metabolism, Inborn Errors
/ drug therapy
Amino Acid Transport System y+L
/ genetics
Amino Acids
/ metabolism
Animals
Citrulline
/ therapeutic use
Disease Models, Animal
Hyperammonemia
/ metabolism
Intestinal Mucosa
/ metabolism
Kidney
/ metabolism
Mice
Mice, Inbred C57BL
Mice, Knockout
Pulmonary Alveolar Proteinosis
/ metabolism
LPI
amino acid transporter
hyperammonemia
hypoargininemia
pulmonary alveolar proteinosis
rare disease
y+LAT1
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
24 Oct 2019
24 Oct 2019
Historique:
received:
07
10
2019
revised:
21
10
2019
accepted:
22
10
2019
entrez:
27
10
2019
pubmed:
28
10
2019
medline:
7
3
2020
Statut:
epublish
Résumé
Lysinuric protein intolerance (LPI) is a rare autosomal disease caused by defective cationic amino acid (CAA) transport due to mutations in
Identifiants
pubmed: 31653080
pii: ijms20215294
doi: 10.3390/ijms20215294
pmc: PMC6862226
pii:
doi:
Substances chimiques
Amino Acid Transport System y+L
0
Amino Acids
0
Slc7a7 protein, mouse
0
Citrulline
29VT07BGDA
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministerio de Ciencia e Innovación
ID : SAF2015-64869-R-FEDER
Organisme : Fundación Ramón Areces
ID : I.O.F.R.ARECES
Organisme : Ministerio de Ciencia e Innovación
ID : RTI2018-09211-B-100
Organisme : Generalitat de Catalunya
ID : 2017 SGR 961
Déclaration de conflit d'intérêts
The authors declare no conflict of interests.
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