Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
GSD-Ib is caused by a deficiency of glucose-6-phosphate transporter (G6PT).
|
31705665 |
2020 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter.
|
31536830 |
2020 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
|
30951856 |
2019 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
The safety and efficacy of several G6PT-expressing recombinant adeno-associated virus pseudotype 2/8 vectors have been examined in murine GSD-Ib.
|
29663270 |
2018 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study demonstrates that G6PT is essential for proliferation and differentiation of MSCs, providing important insights into the GSD-Ib phenotypes.
|
29238966 |
2018 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
G6PT deficiency is responsible for glycogen storage disease type Ib (GSD-Ib), an autosomal recessive disorder associated with both defective metabolic and myeloid phenotypes.
|
29719821 |
2018 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
The conditional mice we have generated represent an excellent tool to study the tissue-specific role of the G6PT gene and the mechanism of long-term complications in GSD1b.
|
29967951 |
2018 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
|
28685844 |
2018 |
Glucose-6-phosphate transport defect
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
|
28224773 |
2017 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib.
|
28224773 |
2017 |
Glucose-6-phosphate transport defect
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
This study suggests that deficiencies in G6PT cause impairment in neutrophil adhesion and migration via aberrant expression of β2 integrins, and our finding should facilitate the development of novel therapies for GSD-Ib.
|
27864142 |
2017 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
Both vectors corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacious.
|
28973635 |
2017 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
|
28224773 |
2017 |
Glucose-6-phosphate transport defect
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
|
26913919 |
2016 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Glucose-6-phosphate transport defect
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.
|
27066451 |
2016 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3).
|
25288127 |
2015 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.
|
25982172 |
2015 |
Glucose-6-phosphate transport defect
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
|
24565827 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
|
24646511 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
|
24565827 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
BEFREE |
We now show that G6PT-deficient neutrophils from GSD-Ib patients are similarly impaired.
|
24565827 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The SLC37 family of sugar-phosphate/phosphate exchangers.
|
24745989 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
|
25356975 |
2014 |
Glucose-6-phosphate transport defect
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
|
22899091 |
2013 |