Wednesday
17 June 2026
15:00 – 16:00 (CEST)
Organizers
COST ACTION CA24124
Young Neutro-NARPS Group
Translational Models for Glycogen Storage Disease Type Ib: From Patient Genetics to Therapeutic Exploration
Dr. Anita Skakic
Associate Research Professor
Group for Rare Disease Research and Therapeutics Development
Institute of Molecular Genetics and Genetic Engineering (IMGGE),
University of Belgrade (UB), Belgrade, Serbia
Wednesday, 17 June 2026, 15:00 – 16:00 (CEST)
References
- Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093.
- Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. 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. Gene. 2019 Jun 30;703:17-25. doi: 10.1016/j.gene.2019.04.002. Epub 2019 Apr 3. PMID: 30951856.
- Parezanovic M, Stevanovic N, Andjelkovic M, Ugrin M, Pavlovic S, Stojiljkovic M, Skakic A. Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model. Mol Genet Genomic Med. 2025 Jan;13(1):e70054. doi: 10.1002/mgg3.70054. PMID: 39803753; PMCID: PMC11726116.
- Milosevic MD, Skakic A, Kecman B, Stankovic S, Kovacevic I, Pavlovic S, Stojiljkovic M. Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy. Mol Diagn Ther. 2025 Sep;29(5):655-673. doi: 10.1007/s40291-025-00795-5. Epub 2025 Jun 19. PMID: 40536628; PMCID: PMC12436581.
Dr Anita Skakić is a postdoctoral researcher at the Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia. Her research focuses on the molecular mechanisms underlying rare metabolic diseases, particularly Glycogen Storage Disease type Ib (GSD Ib). Her work integrates induced pluripotent stem cell (iPSC) technology, CRISPR/Cas9 genome editing, and human in vitro disease models to investigate disease mechanisms and explore novel therapeutic strategies. Her current research is especially focused on the evaluation of small molecules and the modulation of cellular stress, autophagy, and apoptosis pathways in GSD Ib.Dr Anita Skakić is a postdoctoral researcher at the Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia. Her research focuses on the molecular mechanisms underlying rare metabolic diseases, particularly Glycogen Storage Disease type Ib (GSD Ib). Her work integrates induced pluripotent stem cell (iPSC) technology, CRISPR/Cas9 genome editing, and human in vitro disease models to investigate disease mechanisms and explore novel therapeutic strategies. Her current research is especially focused on the evaluation of small molecules and the modulation of cellular stress, autophagy, and apoptosis pathways in GSD Ib.
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