Molecular Mechanisms at the Basis of Systemic Complications of Glycogen Metabolism Disorder
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".
Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 2531
Special Issue Editor
Special Issue Information
Dear Colleagues,
The present Special Issue is focused on molecular mechanisms involved in the pathogenesis of systemic complications of glycogen metabolism disorder. Glycogen storage disease type I (GSDI) is the most frequent form of glycogen metabolism disorder. GSDI is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) accumulates in endoplasmic reticulum (ER) and cytosol in GSD1a and GSD1b, respectively. G6P availability directly modulates long-term complications in patients. In GSDIa, the G6P excess in the liver ER has been associated with hyperlipidemia and therefore mitochondrial disfunction and increasing 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1) activity. Interestingly, recent studies demonstrated that 11βHSD1 activity is increased in GSDIa and reduced in GSDIb. If hyperlipidemia and increasing 11βHSD1 activity may contribute to the development of insulin resistance (IR) and metabolic syndrome (MS) in GSD1a, GSD1b patients appear to be protected. It is noteworthy that in GSD1b the reduced availability of G6P can induce the development of autoimmune disorders and contribute to inflammatory bowel disease (IBD).
This Special Issue is going to focus on molecular mechanisms involved in mitochondrial dysfunction, de novo lipogenesis and cortisol production to increase the scientific community’s interest in this disease.
Dr. Daniela Melis
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- GSDI
- 11ΒHSD1
- Insulin-resistance
- Mitochondrial dysfunction
- Hyperlipidemia
- Autoimmune disorders
- Cortisol
