Aghyad Al Kabbani: Microtubule Integrity in Tauopathies: Exploring the Roles of TAU, Tubulin Tyrosine Ligase-Like Enzymes, and Tubulin Post-Translational Modifications
Noah Tjiang: Mitochondrial Distribution and Dynamics at the Axon Initial Segment and Their Influence on TAU Trafficking
Ilka Maus: Plastin 3: Unraveling novel pathomechanisms for bone and cartilage diseases
Michael Bell-Simons: PhD thesis: Domain requirements and mechanisms of axonal Tau sorting
Tamas Schmidt: From Molecules to Networks: Deciphering Calcium Regulatory Elements and Neuronal Function in Spinal Muscular Atrophy
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 combinatorial antisense oligonucleotide 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 Genes Causing Neuromuscular Diseases
Eike Strathmann: Epigenetic Regulation of PLS3 by the Microsatellite DXZ4 and the Transcription 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 receptors 1 and 2 as part of a potential affected pathway in spinal muscular atrophy and as a drug target for FTY720
Mert Karakaya: Identification and Characterization of Genes Causing Neuromuscular Diseases Using 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 between 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 Neurodegenerative Disorders—Spinal Muscular Atrophy and Ataxia
Aaradhita Upadhyay: Neurocalcin delta (NCALD) knockout impairs adult neurogenesis, whereas a 50% reduction is a safe therapeutic option for spinal muscular atrophy
Shahida Moosa: Next-generation sequencing in clinical practice: novel genes and novel mutations resolve the diagnostic odyssey for patients with undiagnosed genetic disorders
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—Insights from Cellular and Vertebrate Disease Models
Lea Schmitz-Steinkrüger: Genetic Analysis of Patients with a Clinical Diagnosis of Motor Neuron Disease Using Gene Panel Sequencing and Exome Sequencing
Daniel Bamborschke: Genetic Causes of Steroid-Resistant Nephrotic Syndrome
Lilian Andrea Martinez Carrera: Identification and functional characterization of BICD2 mutations causing SMALED2, a congenital dominant form of spinal muscular atrophy
Miriam Peters: Combined therapy with 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 a mouse model of spinal muscular atrophy (SMA)
Andrea Pannes: Novel Functional and Genetic Findings in Autosomal Dominant Tubulointerstitial Kidney Disease
Leyla Naghiyeva: Identification of Genetic Causes in Patients with Motor Neuron Diseases Using Gene-Specific Panels and Exome Sequencing
Yicheng Liu: New Insights into the Molecular Pathogenesis of Accelerated Aging Phenotypes in Hallermann-Streiff and Bloom Syndromes
Markus Storbeck: Characterization of Neuron-Specific Tra2B Knockout Mice and Identification of Tra2b Splicing Targets
Ludwig Heesen: Analyses of spinal muscular atrophy (SMA) modifiers and drug-dependent responses using motor neurons (MNs) derived from induced pluripotent stem cells (iPSCs)
Filippo Beleggia: Innovative strategies for gene identification and functional analysis of progeria syndromes
Ibrahim Köskeroglu: Molecular Causes of Familial Distal Arthrogryposis
Esther Pohl: Molecular Pathogenesis of Selected Autosomal Recessive Disorders: From Gene to Function
Katharina Keupp: Novel Insights into the Molecular Mechanisms of Inherited Bone Disorders
Nadine Plume: Molecular Mechanisms of Isolated and Syndrome-Associated Lipid Metabolic Disorders
Miriam Jakubik: Generation and Characterization of Conditional Bdp1 Knockout Mouse Models—Analyses of the Transcription Factor IIIB Complex
Sebastian Seufert: Inhibition of glioblastoma-mediated secretion of glutamate and pro-migratory TGF-beta: Investigation of antitumor activity in vitro, ex vivo, and in vivo
Bastian Ackermann: Analysis of the modifying influence of Plastin 3 (PLS3) on spinal muscular atrophy (SMA) through the generation of transgenic mouse models
André Heimbach: Identification and Characterization of ATP13A2 Variants and Their Significance for Neurodegenerative Diseases
Lutz Garbes: Histone deacetylase inhibitors for the epigenetic treatment of proximal spinal muscular atrophy
Barbara Pawlik: Molecular mechanisms of congenital limb malformations
Inga Ebermann: Identification and Functional Characterization of Genes Associated with Usher Syndrome
Boidinh Chung: Molecular genetic and functional analyses of the LRP5 gene in a phenotype resembling osteoporosis-pseudoglioma syndrome
Barbara Stiller: Characterization of the P-type ATPase Ypk9 in Saccharomyces cerevisiae as a model for the ATP13A2-mediated form of neurodegeneration
Jan Henning Hauke: Molecular analysis of the epigenetic regulation of SMN2 gene activity in the pathogenesis of spinal muscular atrophy (SMA)
Markus Rießland: In vitro and in vivo characterization of histone deacetylase inhibitors as potential therapeutics for autosomal recessive proximal spinal muscular atrophy (SMA)
Christopher Betzler: Disease progression of type 1 spinal muscular atrophy (SMA) as a function of functional and molecular genetic parameters