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- AG Funktionelle Genetik der Neurodegeneration und neurologische Erkrankungen
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Doktorarbeiten
Ilka Maus: Plastin 3: Unravelling of novel pathomechanisms for bone and cartilage diseases
Björn Reusch: MAGED2: the gene associated with Bartter syndrome type 5 is a key regulator of Gαs signaling in the developing kidney
Sarah Buchholz: Investigating human TAU isoform-specific functions and their toxicity in Alzheimer´s Disease and related tauopathies
Anixa Muinos-Bühl: Development of antisense oligonucleotide combinatorial therapies for spinal muscular atrophy (SMA)
Charlotte Veltman: Characterization of novel potential binding partners of Plastin 3, a protective modifier of Spinal Muscular Atrophy
Andrea Delle Vedove: Identification and Functional Assessment of Novel Neuromuscular Disease-Causing Genes
Eike Strathmann: Epigenetic regulation of PLS3 by the microsatellite DXZ4 and transcriptional regulator CHD4
Franziska Nolte: Uncovering vesicular trafficking defects underlying PLS3 mediated osteoclast dysfunction
Maximilan Paul Thelen: Defective Mitochondria Contribute to Impaired Translation in Spinal Muscular Atrophy
Christian Ulrich Thomas Hoffmann: Sphingosine-1 phosphate receptor 1 and 2 as part of a possible affected pathway in spinal muscular atrophy and drug target of FTY720
Mert Karakaya: Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology
Janine Neugebauer: Uncovering the role of Plastin 3 in bone homeostasis
Wiebke Rehorst: Muscle-secreted factors in spinal muscular atrophy: CTRP3 at the interface of muscle and neuron
Ines Gil Concalvez: MicroRNAs in spinal muscular atrophy: mechanisms underlying microRNA dysregulation in motor neuron disease
Eva Janzen: Novel Modifiers for Inherited Neurogenerative Disorders - Spinal Muscular Atrophy and Ataxia
Aaradhita Upadhyay: Neurocalcin delta (NCALD) knockout impairs adult neurogenesis whereas half reduction is a safe therapeutic option for spinal muscular atrophy
Shahida Moosa: Next-generation-sequencing in the clinic: novel genes and novel mutations resolve the diagnostic odyssey for patients with undiagnosed genetic disoders
Natalia Mendoza-Ferreira: Uncovering and Functional Analysis of Novel Genes and Potential Genetic Modifiers for Neuromuscular Disorders
Svenja Schneider: Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insight from Cellular and Vertebrate Disease Models
Lea Schmitz-Steinkrüger: Genetische Analyse von Patienten mit der klinischen Diagnose einer Motoneuronerkrankung mittels Genpanel-Sequenzierung und Exom-Sequenzierung
Daniel Bamborschke: Genetische Ursachen des Steroidresistenten Nephrotischen Syndroms
Lilian Andrea Martinez Carrera: Identification and funktional characterization of BICD2 mutations causing SMALED2, a congenital dominant form of spinal muscular atrophy
Miriam Peters: Combined therapy of SMN-ASO and Plastin 3 overexpression rescues severe SMA in mice
Seyyedmohsen Hosseinibarkooie: Identification and characterization of molecular pathways underlying the modifier function of Plastin 3 in neurodegenerative disorders
Anna Kaczmarek: Analysis of reduced Neurocalcin delta (NCALD) as a protective modifier in mouse model of Spinal Muscular Atrophy (SMA)
Andrea Pannes: Novel Functional and Genetic Findings in Autosomal Dominant Tubulointerstitial Kidney Disease
Leyla Naghiyeva: Identifizierung der genetischen Ursachen bei Patienten mit Motoneuronen-Erkrankungen mittels genspezifischer Panels und Exom Sequenzierung
Yicheng Liu: New insights into the molecular pathogenesis of accelerated aging phenotypes in Hallermann-Streiff and Bloom syndromes
Markus Storbeck: Characterization of Neuronal-Specific Tra2B Knock-Out Mice and Identification of Tra2b Splicing Targets
Ludwig Heesen: Analyses of spinal muscular atrophy (SMA) modifiers and drug-dependent responses using motoneurons (MNs) derived from induced pluripotent stem cells (iPSCs)
Filippo Beleggia: Innovative strategies for gene identification and functional analysis of progeria syndromes
Ibrahim Köskeroglu: Molekulare Ursache bei familiärer distaler Arthrogryposis
Esther Pohl: Molecular Pathogenesis of Selected Autosomal Recessively Inherited Disorders: From Gene to Function
Katharina Keupp: Novel Insights into molecular mechanisms on inherited bone disorders
Nadine Plume: Molekulare Mechanismen isolierter und Syndrom-assoziierter Lipidstoffwechselstörungen
Miriam Jakubik: Generierung und Charakterisierung von konditionalen Bdp1-knock-outs-Mausmodellen - Analysen des Transkriptionsfaktor IIIB-Komplexes
Sebastian Seufert: Inhibition der Glioblastom-vermittelten Sekretion von Glutamat und pro-migratorischem TGF-Beta: Untersuchung der anti-Tumoraktivität in vitro, ex vivo und in vivo
Bastian Ackermann: Analysis of the modifying influence of Plastin 3 (PLS3) on spinal muscular atrophy (SMA) by generation of transgenic mouse models
André Heimbach: Identifizierung und Charakterisierung von ATP13A2-Varianten und ihre Bedeutung für neurodegenerative Erkrankungen
Lutz Garbes: Histone deacetylase inhibitors for the epigenetic therapy of proximal spinal muscular atrophy
Barbara Pawlik: Molecular mechanisms of congenital limb malformations
Inga Ebermann: Identifizierung und funktionelle Charakterisierung von Genen des Usher-Syndroms
Boidinh Chung: Molekulargenetische und funktionelle Analysen des LRP5-Gens bei einem Osteoporosis-Pseudoglioma-Syndrom-ähnlichen Phänotyp
Barbara Stiller: Charakterisierung der P-Typ ATPase Ypk9 in Saccharomyces cerevisiae als Modell für die ATP13A2-bedingte Form der Neurodegeneration
Jan Henning Hauke: Molekulare Analyse der epigenetischen Regulation der SMN2-Genaktivität in der Pathogenese der spinalen Muskelatrophie (SMA)
Markus Rießland: In vitro and in vivo characterisation of histone deacetylase inhibitors as potential therapeutics for autosomal recessive proximal spinal muscular athrophy (SMA)
Christopher Betzler: Krankheitverlauf der spinalen Muskelatrophie (SMA) Typ 1 in Abhängigkeit von funktionellen und molekulargenetischen Parametern