The Vogel Laboratory: Intracellular Cargo Transport in Congenital Intestinal Diseases
We are focusing on congenital intestinal and liver diseases, which are often caused by mutations in genes that are essential for correct intestinal-epithelial polarization. For example, we have identified mutations in MYO5B and STX3 in microvillus inclusion disease: both genes are essential for the polarized apical cargo transport of transmembrane transporters (Vogel GF et al., JCB, 2015; Vogel GF et al., JCI Insight, 2017; Szabó L et al., Traffic, 2024). We are now turning our attention to myo5b-associated cholestatic liver disease and myo5b-independent apical transport in intestinal epithelial cells.
We recently described the first case of a congenital enteropathy due to mutations in ezrin (manuscript in press), a protein involved in the establishment of proper apical polarity and plasma membrane composition in epithelial cells. We are also addressing the role of the retriever complex and the poorly characterized protein TM9SF4 in polarized plasma membrane cargo trafficking in epithelial cells.
Loss of AP1S1 disrupts epithelial polarity
Publications
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure. Schlieben LD, Achleitner MT, Bourke B, Diesner M, Feichtinger RG, Fichtner A, Flechtenmacher C, Hadzic N, Hegarty R, Heilos A, Janecke A, Konstantopoulou V, Lenz D, Mayr JA, Müller T, Prokisch H, Vogel GF. Hepatol Commun. 2024 Nov 29;8(12):e0598. doi: 10.1097/HC9.0000000000000598. eCollection 2024 Dec 1.
Intracellular Trafficking Defects in Congenital Intestinal and Hepatic Diseases. Szabó L, Pollio AR, Vogel GF. Traffic. 2024 Aug;25(8):e12954. doi: 10.1111/tra.12954.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Vogel GF, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, Abuduxikuer K, Wang JS, Scharrer A, Faqeih EA, Aseeri AT, Vodopiutz J, Heilos A, Pichler J, Huber WD, Müller T, Knisely AS, Janecke AR. Clin Genet. 2024 Sep;106(3):224-233. doi: 10.1111/cge.14524. Epub 2024 Mar 29.
Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study. Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF.
Efficacy of Elimination Diets in Eosinophilic Esophagitis: A Systematic Review and Meta-analysis. Mayerhofer C, Kavallar AM, Aldrian D, Lindner AK, Müller T, Vogel GF.Clin Gastroenterol Hepatol. 2023 Aug;21(9):2197-2210.e3. doi: 10.1016/j.cgh.2023.01.019. Epub 2023 Jan 31.PMID: 36731591.
A CRISPR screen in intestinal epithelial cells identifies novel factors for polarity and apical transport. Klee KMC, Hess MW, Lohmüller M, Herzog S, Pfaller K, Müller T, Vogel GF, Huber LA. Elife. 2023 Jan 20;12:e80135. doi: 10.7554/eLife.80135. PMID: 36661306.
Collaborations
Saskia Wortmann, Paediatrics, University Hospital Salzburg, AT
Funding
ÖNB Anniversary Fund 18019, TWF Grant 0404/2386, ÖGKJ research grant
Contact
Priv.-Doz. Dr. med. univ. Georg-Friedrich, PhD
Email: georg.vogel@i-med.ac.at
Phone: +43 512 504 82184
Vogel-Lab 2025, from left: Beatrix, ,Georg, Luca, Doris, Adam