Michael Pusch

The intracellular subdomain of the volume-regulated anion channel subunit LRRC8A is a hotspot of channel activation

Sara Bertelli, Lu Wang, Malte Klüssendorf, Paola Gavazzo et autres

Volume-regulated anion channels (VRACs), formed by heteromers of LRRC8 subunits, mediate the transport of anions and organic osmolytes in numerous physiological processes. Although their gating mechanism remains poorly understood, conformational rearrangements of the cytosolic leucine-rich repeat domains (LRRDs) have been implicated as …

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Mechanistic insights into DCPIB inhibition of VRAC: Electrostatic control and binding plasticity

Héctor Gaitán‐Peñas, Salomé Llabrés, Marina Pedrola, Marc González-Subías et autres

The volume-regulated anion channel (VRAC), formed by LRRC8 heteromers, regulates cell volume and is a promising therapeutic target. DCPIB is the most widely used VRAC inhibitor, yet its binding mechanism remains poorly defined. Although structural studies suggested a role of residue R103 …

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Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy

Anna Corradi, Antonella Riva, Bruno Sterlini, Lisastella Morinelli et autres

Pathogenic variants in the SCN2A gene, encoding the α-subunit type 2 of the voltage-gated sodium channel NaV1.2, cause a phenotypic spectrum including 4 major disorders as benign familial infantile seizures, developmental and epileptic encephalopathy, intellectual disability, and autism. Gain-of-function variants resulting phenotypes …

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BPS2026 – Dominant effects of CLCN4 neurodevelopmental disease variants in heteromeric endosomal ClC-3/ClC-4 transporters

Abraham Tettey‐Matey, Alessandra Picollo, Francesca Sbrana, Maria Antonietta Coppola et autres

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In vitro cortical networks from SCN1A knock-in mice recapitulate functional alterations of Familial Hemiplegic Migraine Type 3

Raffaella Barbieri, Susanna Alloisio, F Misurale, Cristiana Picco et autres

Dominant Action of CLCN4 Neurodevelopmental Disease Variants in Heteromeric Endosomal ClC-3/ClC-4 Transporters

Abraham Tettey‐Matey, Alessandra Picollo, Francesca Sbrana, Maria Antonietta Coppola et autres

Variants in CLCN3 and CLCN4, encoding the neuronal endosomal Cl−/H+ antiporters ClC-3 and ClC-4, are linked to neurodevelopmental disorders with broad phenotypic variability. Over sixty CLCN4 variants have been functionally characterized, showing gain- or loss-of-function (GoF or LoF) effects. While ClC-3 can …

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BPS2025 - Probing the structural basis of reciprocal effects of pH and chloride on CLC-6 and CLC-7 transport currents

Maria Antonietta Coppola, Abraham Tettey‐Matey, Michael Pusch, Peying Fong

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BPS2025 - TMEM9B interacts with and regulates endolysosomal CLC-3 and CLC-4 transporters

Margherita Festa, Maria Antonietta Coppola, Elena Angeli, Abraham Tettey‐Matey et autres

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BPS2025 - First insights into biophysical and biochemical characteristics of human SLC45A1

Alice Giusto, Margherita Festa, Abraham Tettey‐Matey, Michael Pusch

ALLIN: A tool for annotation of a protein alignment combined with structural visualization

Alessandra Picollo, Michael Pusch

The physiological, functional, and structural properties of proteins and their pathogenic variants can be summarized using many tools. The information relating to a single protein is often spread among different sources requiring different programs for access. It is not always easy to …

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Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets

Elena Conte, Brigida Boccanegra, Giorgia Dinoi, Michael Pusch et autres

Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 encoding the tuberin and hamartin proteins, respectively. Both TSC1 and TSC2 inhibit the mammalian target of rapamycin (mTOR) complexes …

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Publisher Correction: Interactomic exploration of LRRC8A in volume-regulated anion channels

Veronica Carpanese, Margherita Festa, Elena Prosdocimi, Magdalena Bachmann et autres

Author notes Margherita Festa Present address: Institute of Biophysics, CNR, Via De Marini, 6, 16149, Genova, Italy Magdalena Bachmann Present address: Daba Farber Cancer Research Institute, Boston, MA, USA Sara Bertelli Present address: Humboldt Universität Berlin, AG Zelluläre Biophysik, Dorotheenstr, 19-21 10099, …

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