2025

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Nerve cells (green) form neural networks in which information is transmitted. Errors in this communication can lead to neurodegenerative, neurological, and neuropsychiatric diseases. © Pia Venneker / Leibniz-Forschungsinstitut für Molekulare Pharmakologie

22.10.2025

New developmental disorder discovered

Variations in the UNC13A gene cause neurological impairments in children   Whether we are writing an email, rushing for a bus, or humming a tune, every thought, feeling, and action relies on communication between our roughly 100 billion nerve cells. This exchange of information happens at synapses, where messenger substances
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22.10.2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Authors Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N,
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22.10.2025

Phosphoproteomic identification of Mos-MAPK targets in meiotic cell cycle and asymmetric oocyte divisions

Authors Avilov I, Horokhovskyi Y, Mehta P, Welp L, Jakobi J, Cai M, Orzechowski A, Urlaub H, Liepe J, Lenart P Journal Journal of Cell Biology Citation J Cell Biol. 2025 Dec 1;224(12):e202312140. Abstract The Mos kinase activates the ERK/MAPK pathway during oocyte meiosis, controlling essential meiotic functions in species
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20.10.2025

Probing the role of synaptic adhesion molecule RTN4RL2 in setting up cochlear connectivity

Authors Karagulyan N, Überegger M, Qi Y, Babai N, Hofer F, Johnson Chacko L, Wang F, Luque M, Glueckert R, Schrott-Fischer A, Hua Y, Moser T, Bandtlow C Journal eLife Citation Elife. 2025 Oct 20;14:RP103481 Abstract Sound encoding depends on the precise and reliable neurotransmission at the afferent synapses between
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17.10.2025

Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing

Authors Chen H, Cretu C, Trebilcock A, Evdokimova N, Babai N, Feldmann L, Leidner F, Benseler F, Mutschall S, Esch K, Szabo CZK, Pena V, Pape C, Grubmüller H, Strenzke N, Brose N, Wichmann C, Preobraschenski J, Moser T Journal Sciende Advances Citation Sci Adv. 2025 Oct 17;11(42):eady8532. Abstract Hearing
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16.10.2025

Nanoscale architecture and dynamics of CaV1.3 channel clusters in cardiac myocytes revealed by single channel nanoscopy

Authors Schwenzer N, Tsukanov R, Kohl T, Basak S, Sobitov I, Seibertz F, Kapoor R, Voigt N, Enderlein J, Lehnart SE   Journal Journal of Molecular and Cellular Cardiology Plus   Citation J Mol Cell Cardiol Plus. 14 (2025) 100490.   Abstract The clustering of L-type calcium channels (LTCC) for
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15.10.2025

Persistence of vestibular function in the absence of glutamatergic transmission from hair cells

Authors Mukhopadhyay M, Modgekar R, Yang-Hood A, Ohlemiller KK, Militchin V, Xiao M, Shen Z, Rensing NR, Wong M, Lee SJ, Seal RP, Warchol ME, Maloney SE, Yuede CM, Rutherford MA, Pangrsic T Journal BioRxiv Citation bioRxiv 2025.10.15.682551. Abstract Quantal synaptic transmission in vestibular end-organs is glutamatergic. Although genetic deletion
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15.10.2025

Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants

Authors Owrang D, Rad A, Cretu C, Lin SJ, Mustafa HM, Huang K, Waheed N, Hussain M, Riaz S, Preobraschenski J, Varshney GK, Oprea G, Vona B Journal QJM: An International Journal of Medicine Citation QJM. 2025 Oct 15:hcaf246. Abstract Background: The relationship between observed clinical phenotypes and underlying genotypes
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