Explanipedia

Crosstalk between the Methyl-Cytosine Dioxygenase TET3 and the Methyl-CpG-binding protein MECP2 Controls Neuronal Maturation Open

Franziska R. Traube, Gilles Gasparoni, Anett Winkler, Anna S. Geserich, Hugo Sepúlveda , et al. · 2025

Active DNA demethylation depends on Ten-Eleven-Translocation (TET) enzymes, which oxidize 5-methylcytosine (mC) to 5-hydroxymethylcytosine (hmC) and further derivatives. Mutations in TET3 , encoding the predominant neuronal isoform, lead t…

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes Open

Valentin Johannes Weber, Alice Reschigna, Maximilian Gerhardt, Thomas Heigl, Klara Sonnie Hinrichsmeyer , et al. · 2025

Many patients suffering from inherited diseases do not receive a genetic diagnosis and are therefore excluded as candidates for treatments, such as gene therapies. Analyzing disease gene transcripts from patient cells holds potential for d…

Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial Open

Felix F. Reichel, M. Dominik Fischer, Katarína Štingl, Laura Kuehlewein, Immanuel P. Seitz , et al. · 2025

Purpose PDE6A -associated retinitis pigmentosa (RP) is a rare inherited retinal disease leading to severe vision loss and blindness, with no available treatment. This study assessed the safety and vision outcomes of a gene therapy using an…

TRPML2 channel modulation by PI(3,5)P₂ and small-molecule agonists controls endosomal vesicle dynamics Open

Zi-Qi Gu, H. Wang, Yanfen Li, Einar Krogsaeter, Alice Lin , et al. · 2025

TRPML2 is an endolysosomal calcium-permeable channel gated by phosphatidylinositol 3,5-bisphosphate (PI(3,5)P₂). However, its subcellular localization and functional contribution to compartment-specific vesicle trafficking remain incomplet…

Investigating the Immunogenic Potential of Variations in Host Cell Protein Levels in Clinical-Grade AAV8 Products Open

Immanuel P. Seitz, Eduardo Rodríguez‐Bocanegra, Kirsten Bucher, Felix F. Reichel, Stylianos Michalakis , et al. · 2025

HCP impurities were of low complexity, but pronounced variations in their abundance were observed between lots. High HCP levels were not overtly immunogenic in vivo and in vitro. However, despite statistical limitations, they seemed to be …

CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposes Open

Valentin Johannes Weber, Alice Reschigna, Maximilian Gerhardt, Klara Sonnie Hinrichsmeyer, Dina Yehia Otify , et al. · 2024

Many patients suffering from inherited diseases do not receive a genetic diagnosis and are therefore excluded as candidates for treatments, such as gene therapies. Analyzing disease-related gene transcripts from patient cells would improve…

Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis Open

Carla Abrahamian, Rachel Tang, Rebecca Deutsch, Lina Ouologuem, Eva-Maria Weiden , et al. · 2024

Creating bottom-up RNA transfer vehicles from synthetic protein assemblies Open

Wolfgang Wurst, Maren Kirstin Schuhmacher, Christoph Gruber, Christopher M. Lang, Ricardo Ruijpers , et al. · 2024

Evolution guides biological systems to populate ecological niches, with viruses being one of the most successful examples of that principle. Viruses evolved over billions of years for the efficient transfer of nucleic acids. Although highl…

Metrological realization of the radon activity concentration in air Open

Thomas R. Beck, Martin Biel · 2024

In the framework of the EMPIR research project Metrology for Radon, a facility was devised that provides stable and traceable atmospheres for the realization of radon activity concentration at a high metrological level. The facility is use…

Pacemaker Channels and the Chronotropic Response in Health and Disease Open

Konstantin Hennis, Chiara Piantoni, Martin Biel, Stefanie Fenske, Christian Wahl‐Schott · 2024

Loss or dysregulation of the normally precise control of heart rate via the autonomic nervous system plays a critical role during the development and progression of cardiovascular disease—including ischemic heart disease, heart failure, an…

OCaR1 endows exocytic vesicles with autoregulatory competence by preventing uncontrolled Ca2+ release, exocytosis, and pancreatic tissue damage Open

Volodymyr Tsvilovskyy, Roger Ottenheijm, Ulrich Kriebs, Aline Schütz, Kalliope N. Diakopoulos , et al. · 2024

Regulated exocytosis is initiated by increased Ca2+ concentrations in close spatial proximity to secretory granules, which is effectively prevented when the cell is at rest. Here we showed that exocytosis of zymogen granules in acinar cell…

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease Open

Nikoletta Nagy, Margit Pál, József Kun, Bence Gálik, Péter Urbán , et al. · 2024

Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of …

Metrological Realization of the Radon Activity Concentration in Air Open

Thomas R. Beck, Martin Biel · 2024

mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy Open

Lisa Maria Riedmayr, Klara Sonnie Hinrichsmeyer, Stefan Bernhard Thalhammer, David Manuel Mittas, Nina Karguth , et al. · 2023

Large genes including several CRISPR-Cas modules like gene activators (CRISPRa) require dual adeno-associated viral (AAV) vectors for an efficient in vivo delivery and expression. Current dual AAV vector approaches have important limitatio…

The Concise Guide to PHARMACOLOGY 2023/24: Ion channels Open

S P H Alexander, Alistair Mathie, John A. Peters, Emma L. Veale, Jörg Striessnig , et al. · 2023

The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000…

Hyperpolarization-activated cyclic nucleotide-gated cation channel 3 promotes HCC development in a female-biased manner Open

Yueqi Zhang, Xinhui Liu, Kairui Sun, Yue Luo, Jack Yang , et al. · 2023

Xenon’s Sedative Effect Is Mediated by Interaction with the Cyclic Nucleotide-Binding Domain (CNBD) of HCN2 Channels Expressed by Thalamocortical Neurons of the Ventrobasal Nucleus in Mice Open

Nour El Dine Kassab, Verena Mehlfeld, Jennifer Kass, Martin Biel, Gerhard Schneider , et al. · 2023

Previous studies have shown that xenon reduces hyperpolarization-activated cyclic nucleotide-gated channels type-2 (HCN2) channel-mediated current (Ih) amplitude and shifts the half-maximal activation voltage (V1/2) in thalamocortical circ…

Cyclic nucleotide-regulated channels (CNG) in GtoPdb v.2023.1 Open

Elvir Bećirović, Martin Biel, Stefanie Fenske, Verena Hammelmann, Franz Hofmann , et al. · 2023

Cyclic nucleotide-gated (CNG) channels are responsible for signalling in the primary sensory cells of the vertebrate visual and olfactory systems. CNG channels are voltage-independent cation channels formed as tetramers. Each subunit has 6…

mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy Open

Lisa Maria Riedmayr, Klara Sonnie Hinrichsmeyer, Stefan Bernhard Thalhammer, Nina Karguth, Sybille Böhm , et al. · 2023

Large genes including several CRISPR-Cas modules, such as gene activators (CRISPRa), require dual adeno-associated viral (AAV) vectors for an efficient in vivo delivery and expression. Current dual AAV vector approaches have important limi…

Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies Open

Maximilian Gerhardt, Siegfried Priglinger, Martin Biel, Stylianos Michalakis · 2023

The visual process begins with the absorption of photons by photopigments of cone and rod photoreceptors in the retina. In this process, the signal is first amplified by a cyclic guanosine monophosphate (cGMP)-based signaling cascade and t…

More than meets the eye: The role of microglia in healthy and diseased retina Open

Elisa Murenu, Maximilian-Joachim Gerhardt, Martin Biel, Stylianos Michalakis · 2022

Microglia are the main resident immune cells of the nervous system and as such they are involved in multiple roles ranging from tissue homeostasis to response to insults and circuit refinement. While most knowledge about microglia comes fr…

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model Open

Surabhi Kandaswamy, Lena Zobel, Bina John, Sathiyavedu Thyagarajan Santhiya, Jacqueline Bogedein , et al. · 2022

Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In an Indian family suffering from retinitis pigmentosa,…

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model Open

Surabhi Kandaswamy, Lena Zobel, Bina John, Sathiyaveedu Thyagarajan Santhiya, Jacqueline Bogedein , et al. · 2022

Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In a family suffering from retinitis pigmentosa, we iden…

TPC2 rescues lysosomal storage in mucolipidosis type IV , Niemann–Pick type C1, and Batten disease Open

Anna Scotto Rosato, Einar Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco , et al. · 2022

Paradigm shift: new concepts for HCN4 function in cardiac pacemaking Open

Konstantin Hennis, Martin Biel, Stefanie Fenske, Christian Wahl‐Schott · 2022

Lysosomal TRPML1 regulates mitochondrial function in hepatocellular carcinoma cells Open

Wei Xiong Siow, Yaschar Kabiri, Rachel Tang, Yu‐Kai Chao, Eva Plesch , et al. · 2022

Liver cancers, including hepatocellular carcinoma (HCC), are the second leading cause of cancer death worldwide, and novel therapeutic strategies are still highly needed. Recently, the endolysosomal cation channel TRPML1 (also known as MCO…

Endolysosomal cation channels point the way towards precision medicine of cancer and infectious diseases Open

Cheng‐Chang Chen, Einar Krogsaeter, Ching‐Ying Kuo, Min‐Chuan Huang, Sui‐Yuan Chang , et al. · 2022

Infectious diseases and cancer are among the key medical challenges that humankind is facing today. A growing amount of evidence suggests that ion channels in the endolysosomal system play a crucial role in the pathology of both groups of …

Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice Open

Barbara Spix, Elisabeth Butz, Cheng‐Chang Chen, Anna Scotto Rosato, Rachel Tang , et al. · 2022

MicroRNA-365 regulates human cardiac action potential duration Open

Dena Esfandyari, Bio Maria Ghéo Idrissou, Konstantin Hennis, Petros Avramopoulos, Anne Dueck , et al. · 2022

THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Ion channels Open

S P H Alexander, Alistair Mathie, John A. Peters, Emma L. Veale, Jörg Striessnig , et al. · 2021

The Concise Guide to PHARMACOLOGY 2021/22 is the fifth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of nearly 1900 human drug targets with an emphasi…

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