Anselm H. C. Horn

The utility of chorionic villus sample cells for functionally assessing Noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests available for prenatal cases …

Investigation of the Interactions and pH-Dependent Structural Changes in Helical Peptides by Molecular Dynamics Simulations

Silvana S. Zurmühl, Anselm H. C. Horn, Simon Leukel, Jutta Eichler et autres

Electrostatic interactions between charged amino acid side chains play an important role for the stability of α-helices. The strength of these interactions depends on the protonation state of the residues, which is determined by the pH of the environment. Force fields used …

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Prevalence and characterization of germline RAS pathway variants in children with chronic myeloid leukemia

Tabita Ghete, Laura Gaschler, Manuela Krumbholz, Stephanie Sembill et autres

Genetic predisposition to chronic myeloid leukemia (CML) is not extensively defined, since CML predominantly affects older adults and leukemogenesis is facilitated by age-related accumulation of secondary mutations. Pediatric cases are rare, but studies show that 10% of pediatric patients with CML carry …

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Comparative Molecular Dynamics Study of 19 Bovine Antibodies with Ultralong CDR H3

Olena Denysenko, Anselm H. C. Horn, Heinrich Sticht

Background/Objectives: Cows produce antibodies with ultralong CDRH3 segments (ulCABs) that contain a disulfide-stabilized knob domain. This domain is connected to the globular core of the antibody by a β-strand stalk. In the crystal structures, the stalk protrudes from the core in an …

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Mode of Metal Ligation Governs Inhibition of Carboxypeptidase A

Jorge Antonio Amador Balderas, Frank Beierlein, Anselm H. C. Horn, Senta Volkenandt et autres

Carboxypeptidase is a Zn-dependent protease that specifically recognises and hydrolyses peptides with a hydrophobic side chain at the C-terminal residue. According to hydrolysis mechanisms proposed in the literature, catalysis requires a water molecule to be close to the Zn ion so as …

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A high proportion of germline variants in pediatric chronic myeloid leukemia

Manuela Krumbholz, Anna Dolnik, Eric Sträng, Tabita Ghete et autres

Chronic myeloid leukemia (CML) typically occurs in late adulthood. Pediatric CML is a rare form of leukemia. In all age groups, the characteristic genetic driver of the disease is the BCR::ABL1 fusion gene. However, additional genomic events contribute to leukemic transformation, which …

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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl et autres

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although somatically frequently mutated in cancer, germline variants in ZNRF3 have not been established as causative for neurodevelopmental disorders (NDDs). …

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Molecular‐Modelling‐Workshop in Erlangen

Anselm H. C. Horn

Abstract Der 36. Molecular Modelling Workshop (MMWS) der Molecular Graphics and Modeling Society – Deutschsprachige Sektion (MGMS‐DS) fand wie seit mehr als 15 Jahren in Erlangen statt. Zu der dreitägigen Veranstaltung Mitte März trafen sich etwa 80 Menschen von Universitäten und Unternehmen …

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Fang Yang, Anaïs Begemann, Nadine Reichhart, Akvile Haeckel et autres

Anoctamins are a family of Ca 2+ -activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D ) …

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Two remarkable serine/leucine polymorphisms in Helicobacter pylori: functional importance for serine protease HtrA and adhesin BabA

Steffen Backert, Nicole Tegtmeyer, Anselm H. C. Horn, Heinrich Sticht et autres

Single nucleotide polymorphisms (SNPs) account for significant genomic variability in microbes, including the highly diverse gastric pathogen Helicobacter pylori. However, data on the effects of specific SNPs in pathogen-host interactions are scarce. Recent functional studies unravelled how a serine/leucine polymorphism in serine …

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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer et autres

Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter …

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In Silico Study of Camptothecin-Based Pro-Drugs Binding to Human Carboxylesterase 2

Frank Beierlein, Anselm H. C. Horn, Heinrich Sticht, Andriy Mokhir et autres

Pro-drugs, which ideally release their active compound only at the site of action, i.e., in a cancer cell, are a promising approach towards an increased specificity and hence reduced side effects in chemotherapy. A popular form of pro-drugs is esters, which are …

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