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.

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Dr. rer. nat. Annabelle Arlt

Website

+49 228 28716546

2G/607

Venusberg Campus 1

53127 Bonn

Additional contact information
© Markus.Hoppe.Photography

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

Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome

Annabelle Arlt,  Alexej Knaus,  Tzung-Chien Hsieh,  Hannah Klinkhammer,  Meghna Ahuja Bhasin, Alexander Hustinx,  Shahida Moosa,  Peter Krawitz,  Ekanem Ekure

American Journal of Medical Genetics Part A May 2024

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