Annabelle Arlt
Research
On all eukaryotic cells a specific glycolipid functions as an anchor to attach proteins to the plasma membrane: The glycosylphosphatidylinositol (GPI) anchor. There are more than 150 proteins that are attached to the cell surface via the GPI anchor. It therefore plays important roles in signal transduction, cell adhesion, antigen presentation and complement regulation. So far 29 genes have been identified in the synthesis and maturation of the GPI anchor, and attachment and transport of GPI anchored proteins (GPI-APs). Defects in the synthesis and maturation pathway of the GPI anchor, which lead to reduction of GPI-APs, are a subclass of congenital disorders of glycosylation (CDG). Disease-causing mutations have been described for 17 of these genes. Among the most common features in GPI biosynthesis defects (GPIBDs) are intellectual disability, epilepsies, and elevated alkaline phosphatase activity. However, the expressivity of the clinical features varies from severe syndromic forms with multiple organ malformations to mild non-syndromic intellectual disability. Yet, the pathophysiological implications of GPI deficiencies that lead to the broad phenotypic spectrum are only poorly understood.
My current scientific project focuses on the functional characterization of pathomechanisms and the development of gene-therapeutical approaches in mouse models for inherited GPIBDs. Moreover, I am interested in the discovery of rare disease genes by whole-exome sequencing data analysis.
Dr. rer. nat. Annabelle Arlt
2G/607
Venusberg Campus 1
53127 Bonn
Affiliation
Institute for Genomic Statistics and Bioinformatics - University Hospital Bonn, Germany
Scientific Vitae
- Since 2023 Postdoc at the Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany
Working on therapeutical approaches for GPI anchor deficiencies - 2021-2023 Postdoc at the Institute of Human Genetics, University of Münster, Germany
Creating medical reports and working on the establishment of new molecular genetics methods - 2019-2021 Postdoc at the Institute for Clinical Genetics and Tumor Genetics Bonn (Amedes Genetics), Germany
Working on genomic and proteomic signatures in neuromuscular diseases - April 2019 Obtained doctor rerum naturalium with magna cum laude from Johannes Gutenberg-Universität Mainz
- 2014-2019 PhD student at the Institute of Human Genetics, University Medical Center Mainz, Germany
Working on molecular mechanisms of brain function in mTOR-deficient intellectual disability syndromes - 2014- Advanced training in human genetics, German Society of Human Genetics e.V., München, Germany
- 2011-2014 Master of Science in Biology at Justus-Liebig-University of Gießen, Germany
Publications
Individual Treatment Trial of PIGV-Associated Mabry Syndrome with D-Mannose in a Young Child
Marta Agnes Somorai, Annabelle Arlt, Peter Krawitz, Jochen Baumkötter, Volker Mall
Journal of Genetic Medicine and Gene Therapy Dec 2023
GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders
Hellen Lesmann, […], Annabelle Arlt, […] , Peter M. Krawitz, Tzung-Chien Hsieh
medRxiv
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A and Hiz S
Orphanet Journal of Rare Diseases Jan 22
Frontiers in Psychology, 16, Article 675170 (1–18).
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
Della Marina A, Arlt A, Schara- Schmidt U, Depienne C, Gangfuß A, Kölbel A, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A and Roos A
Cells Dec 2021
Molecular Mechanisms of Brain Function in mTOR-Deficient Intellectual Disability Syndromes
Annabelle Arlt
April 2019