Assorted dysfunctions of endosomal alkali cation/proton exchanger
Amino Acid Substitution
Animals
Ataxia
/ genetics
Cricetinae
Endosomes
/ chemistry
Epilepsy
/ genetics
Genetic Diseases, X-Linked
/ genetics
HeLa Cells
Humans
Hydrogen-Ion Concentration
Intellectual Disability
/ genetics
Microcephaly
/ genetics
Mutation, Missense
Ocular Motility Disorders
/ genetics
Protein Domains
Sodium-Hydrogen Exchangers
/ chemistry
apoptosis
endocytosis
endosome
membrane transport
neurological disease
pH regulation
protein sorting
sodium-proton exchange
structure–function
Journal
The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R
Informations de publication
Date de publication:
15 05 2020
15 05 2020
Historique:
received:
10
01
2020
revised:
07
04
2020
pubmed:
12
4
2020
medline:
29
12
2020
entrez:
12
4
2020
Statut:
ppublish
Résumé
Genetic screening has identified numerous variants of the endosomal solute carrier family 9 member A6 (
Identifiants
pubmed: 32277048
pii: S0021-9258(17)48209-3
doi: 10.1074/jbc.RA120.012614
pmc: PMC7242699
doi:
Substances chimiques
SLC9A6 protein, human
0
Sodium-Hydrogen Exchangers
0
Banques de données
PDB
['5bz3']
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
7075-7095Subventions
Organisme : CIHR
ID : PJT-155976
Pays : Canada
Organisme : CIHR
ID : PJT-162365
Pays : Canada
Organisme : CIHR
ID : MOP-133611
Pays : Canada
Organisme : CIHR
ID : PJT-155976
Pays : Canada
Informations de copyright
© 2020 Ilie et al.
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