Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, these results demonstrate that SCD-associated mutations of UBIAD1 impair its ER-to-Golgi transportation and enhance its interaction with HMGCR.
|
31323021 |
2019 |
Anemia, Sickle Cell
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results establish the physiological significance of UBIAD1 in cholesterol homeostasis and indicate inhibition of HMGCR ERAD contributes to SCD pathogenesis.
|
30785396 |
2019 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, an SCD-associated UBIAD1 variant inhibited reductase ERAD, thereby stabilizing the enzyme and contributing to enhanced synthesis and intracellular accumulation of cholesterol.
|
29167270 |
2018 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we generated a mouse line carrying Ubiad1 N100S point mutation using the CRISPR/Cas9 technique to investigate the pathogenesis of SCD.
|
29977031 |
2018 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The other studied SCD family represents the second family reported worldwide with the UBIAD1 p.Asp112Asn variant.
|
30084067 |
2018 |
Anemia, Sickle Cell
|
0.100 |
Biomarker
|
disease |
BEFREE |
Collectively, these findings disclose a novel sensing mechanism that allows for stringent metabolic control of intracellular trafficking of UBIAD1, which directly modulates reductase degradation and becomes disrupted in SCD.
|
27121042 |
2016 |
Anemia, Sickle Cell
|
0.100 |
Biomarker
|
disease |
BEFREE |
The current results identify UBIAD1 as the elusive target of geranylgeraniol in reductase degradation, the inhibition of which may contribute to accumulation of cholesterol in SCD.
|
25742604 |
2015 |
Anemia, Sickle Cell
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Impaired MK-4 synthesis is a biochemical defect identified in SCD suggesting UBIAD1 links vitamin K and cholesterol metabolism through physical contact between enzymes and metabolites.
|
23169578 |
2013 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD).
|
22065921 |
2011 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We characterized five novel mutations in the UBIAD1 gene in ten SCD families, including a first SCD family of Native American ethnicity.
|
20505825 |
2010 |
Anemia, Sickle Cell
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our newly reported UBIAD1 mutation suggests that CDCD is actually a variant of SCD.
|
20489584 |
2010 |