Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of
Brain
/ diagnostic imaging
Brain Diseases
/ genetics
Cell Membrane
/ metabolism
Child, Preschool
Electroencephalography
GTP-Binding Protein alpha Subunits, Gi-Go
/ genetics
Glutamine
/ genetics
Golgi Apparatus
/ metabolism
Guanosine Triphosphate
/ metabolism
Humans
Hydrolysis
Infant
Magnetic Resonance Imaging
Male
Mutant Proteins
/ metabolism
Protein Binding
Structure-Activity Relationship
Subcellular Fractions
/ metabolism
G proteins
GNAI1
GNAO1
GTP binding
Gln52
Golgi
case report
dominant mutation
molecular etiology
pediatric encephalopathy
plasma membrane
protein–protein interactions
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
14 10 2021
14 10 2021
Historique:
received:
29
07
2021
revised:
29
09
2021
accepted:
12
10
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
15
12
2021
Statut:
epublish
Résumé
Heterotrimeric G proteins are immediate transducers of G protein-coupled receptors-the biggest receptor family in metazoans-and play innumerate functions in health and disease. A set of de novo point mutations in
Identifiants
pubmed: 34685729
pii: cells10102749
doi: 10.3390/cells10102749
pmc: PMC8535069
pii:
doi:
Substances chimiques
GNAO1 protein, human
0
Mutant Proteins
0
Glutamine
0RH81L854J
Guanosine Triphosphate
86-01-1
GNAI1 protein, human
EC 3.6.5.1
GTP-Binding Protein alpha Subunits, Gi-Go
EC 3.6.5.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
ID : 31003A_175658
Organisme : Russian Science Foundation
ID : 21-15-00138
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