Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.
Adolescent
Adult
Aged
Binding Sites
Blood Proteins
/ metabolism
Cells, Cultured
Child
Female
Glucuronosyltransferase
/ genetics
Hemoglobin A
/ chemistry
Hemoglobins, Abnormal
/ chemistry
Humans
Italy
Male
Middle Aged
Molecular Chaperones
/ metabolism
Mutation
Phenotype
Protein Binding
Protein Stability
RNA Stability
RNA, Messenger
/ genetics
Thalassemia
/ genetics
UGT1A1
human α-hemoglobin
mRNA quality control
molecular chaperone AHSP
molecular modeling
no-go decay
unstable α-Hb variants
α-thalassemia
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
31 07 2020
31 07 2020
Historique:
received:
17
06
2020
revised:
27
07
2020
accepted:
29
07
2020
entrez:
6
8
2020
pubmed:
6
8
2020
medline:
18
3
2021
Statut:
epublish
Résumé
We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in
Identifiants
pubmed: 32751969
pii: genes11080870
doi: 10.3390/genes11080870
pmc: PMC7466077
pii:
doi:
Substances chimiques
AHSP protein, human
0
Blood Proteins
0
Hemoglobins, Abnormal
0
Molecular Chaperones
0
RNA, Messenger
0
Hemoglobin A
9034-51-9
UGT1A1 enzyme
EC 2.4.1.-
Glucuronosyltransferase
EC 2.4.1.17
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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