Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

BACKGROUND: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of th...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Melis, Daniela, Rossi, Alessandro, Pivonello, Rosario, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, Giovanna, Casa, Roberto Della, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, Parenti, Giancarlo
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4518509/
https://ncbi.nlm.nih.gov/pubmed/26219379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0301-2
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