A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Axel Pagenstecher, Sonja Stahl, Ulrich Sure, +1

Human Molecular Genetics

Endothelial Cell MosaicismEpendymaGenetic DisorderNeuroanatomyComplete Inactivation +13

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Sonja Stahl, Elisa Schleider, Sybille Ullrich, +3

Neurogenetics

NeuroanatomyCommon PathogenesisPathologyCerebral Cavernous MalformationsNeurology +3

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Sonja Stahl, Sabine Gaetzner, Bettina Brackertz, +13

Human Mutation

GeneticsSplice VariantPathologyDisease Gene IdentificationSplicing Variant +14

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

Sonja Stahl, Benjamin M. Hogan, Jörg Reinders, +3

Human Mutation

NeurogenomicsCerebral OrganoidSocial SciencesNeuroinflammationDomain Mapping +17

Proteomic analysis of cathepsin B and L-deficient mouse brain lysosomes

Sonja Stahl, Yvonne Reinders, Esther Asan, +4

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Protein FunctionCathepsin BNatural SciencesMedicineAutophagy +5

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3

Elisa Schleider, Sonja Stahl, Joycelyn Wüstehube, +3

Neurogenetics

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation

Sabine Gaetzner, Sonja Stahl, Oǧuzkan Sürücü, +5

Neurosurgical Review

Molecular NeurosciencePathologyCcm1 Gene DeletionNeurologyNeuroscience +4

Clinical impact of CCM mutation detection in familial cavernous angioma

Oǧuzkan Sürücü, Ulrich Sure, Sabine Gaetzner, +4

Child s Nervous System

Ccm Mutation DetectionVascular MalformationPathologyMolecular MedicineMedicine +1

Endostatin's heparan sulfate-binding site is essential for inhibition of angiogenesis and enhances in situ binding to capillary-like structures in bone explants

Sabine Gaetzner, Martijn Deckers, Sonja Stahl, +3

Matrix Biology

Tissue EngineeringSclerostinAngiogenesisBone Morphogenic ProteinMedicine +8

Non–heparan sulfate‐binding interactions of endostatin/collagen XVIII in murine development

Natalia Rychkova, Sonja Stahl, Sabine Gaetzner, +1

Developmental Dynamics