A5057207978- Microtubule and mitosis dynamics
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Immunodeficiency and Autoimmune Disorders
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Hippo pathway signaling and YAP/TAZ
- Genomics and Chromatin Dynamics
- Autophagy in Disease and Therapy
- Medical and Biological Sciences
- Axon Guidance and Neuronal Signaling
- Circular RNAs in diseases
Research Institute of Molecular Pathology
2016-2023
Vienna Biocenter
2016-2023
Rockefeller University
2022
Medical University of Vienna
2022
The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block impaired immune responses as cause hypogammaglobulinemia. mice displayed behavioral deficits all domains. model showed aberrant cerebellar foliation severely sensorimotor learning....
Abstract The tubulinopathies are an umbrella of rare diseases that result from mutations in tubulin genes and frequently characterised by severe brain malformations. characteristics a given disease reflect the expression pattern transcript, function gene, role microtubules play particular cell type. Mouse models have proved to be valuable tools provided insight into molecular cellular mechanisms underlie state. In this manuscript we compare two Tuba1a mouse models, both which express...
The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for development mammalian brain. Consequently, mutations in genes that encode structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These commonly referred as tubulinopathies. Here we report addition recessive quadrupedalism, also known Uner Tan syndrome (UTS), growing list diseases caused by tubulin variants. Analysis a consanguineous UTS family...
Microtubules play a critical role in multiple aspects of neurodevelopment, including the generation, migration and differentiation neurons. A recurrent mutation (R402H) α-tubulin gene TUBA1A is known to cause lissencephaly with cerebellar striatal phenotypes. Previous work has shown that this does not perturb chaperone-mediated folding tubulin heterodimers, which are able assemble incorporate into microtubule lattice. To explore molecular mechanisms disease state we generated new conditional...