Prof. Dr. Jochen Staiger
Prof. Dr. Bernhard Reuss
Gabriele Schmidt
Dr. rer. nat. Julien Guy
Dr. rer. nat. Martin Möck
Dr. med. Rebeka Andrea Palicz
Dr. rer. nat. Joachim Rosenbusch
Dr. rer. nat. Mirko Witte
Merve Özgür Erat
Aybeniz Ece Cetin
Weilin Chen
Xiaoyi Mao
Anouk Meeuwissen
Felix Preuss
Jenifer Rachel
Pauline Antonie Ulmke
Harun Akkoyun
Simon Badura
Thore Behrendt
Felicita Fischer
Janis Hülsemann
Alina Rüppel
Lisa Thiecke
Sabrina Hübner
Christin Korb
Ima Mansori
Nicolas Zdun
Sandra Heinzl
Patricia Sprysch
Pavel Truschow
Dr. rer. nat. Csaba Dávid
Dr. rer. nat. Alvar Prönneke
PD Dr. Michael Rickmann
Dr. Marcel Ruiz Mejias
Dr. rer. nat. Dirk Schubert
Dr. Godwin Sokpor
Dr. rer. nat. Nidhi Subhashini
Dr. rer. nat. Tran Tuoc
Dr. med. Robin Wagener
Dr. rer. nat. Yuanbin Xie
Dr. rer. nat. Xiaojuan Zhou
Eman Abbas
Michael Feyerabend
Georg Hafner
Kamila Kiszka
Nieves Mingo Moreno
Ramanathan Narayanan
Huong Nguyen
Florian Walker
Khatuna Aslanishvili
Christina Bachmann
Jürgen Delchmann
Esther Alexandra Dockhorn
Tatjana Fischer
Anna Garcia Galera
Kristina Glöckner
Dilbrin Khelo
Stephen Olt
Bettina Pater
Alexandra Sachkova
Bianca Scheuer
Joris Brehmer
Dennis Dalügge
Julia Dziubek
Ricardo Castro Hernandez
Fernando Gonzalez Ibanez
Anette Mertens
Megha Patwa
Adrián Villalobos
Simon Weiler
Maxim Wintergoller
Anna Dudek
Heike Faust
Ansgar Jahn
Linh Pham

Ulmke
Last Name: | Ulmke | Position: | PhD Student |
First Name: | Pauline Antonie | Location: | Göttingen |
Academic Title: | Tel.: | +49-(0)551/39-7072 | |
e-Mail: |
Curriculum Vitae
Publications
2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice.
Pringsheim M,, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse‐Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K.
Ann Clin Transl Neurol. https://doi.org/10.1002/acn3.735, 2019.
abstract link
Objective
FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.
Methods
We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re‐analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/− mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies.
Results
Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of Foxg1 heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix.
Interpretation
Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome.
2018
Chromatin remodeling BAF155 subunit regulates the genesis of basal progenitors in developing cortex .
Narayanan R, Pham L, Kerimoglu C, Watanabe T, Hernandez RC, Sokpor G, Ulmke PA, Kiszka KA, Tonchev AB, Rosenbusch J, Seong RH, Teichmann U, Frahm J, Fischer F, Bonn S, Stoykova A, Staiger JF, Tuoc T.
iScience (Cell Press), DOI: https://doi.org/10.1016/j.isci.2018.05.014, 2018.
abstract link
The abundance of basal progenitors (BPs) - basal radial glia progenitors (bRGs) and basal intermediate progenitors (bIPs), in primate brain has been correlated to the high degree of cortical folding. Here we examined the role of BAF155, a subunit of the chromatin remodeling BAF complex, in generation of cortical progenitor heterogeneity. The conditional deletion of BAF155 led to diminished bIP pool and increased number of bRGs, due to delamination of apical RGs. We found that BAF155 is required for normal activity of neurogenic transcription factor PAX6, thus controlling expression of genes that are involved in bIP specification, cell-cell interaction and establishment of adherens junction. In PAX6-dependent manner, BAF155 regulates the expression of the CDC42 effector protein CEP4, thereby controlling progenitor delamination. Furthermore, BAF155-dependent chromatin remodeling seems to exert a specific role in the genesis of BPs through regulation of human RG-specific genes (such as Foxn4) that possibly acquired evolutionary significance.