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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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15.10.2025

Impaired Atrial Mitochondrial Calcium Handling in Patients With Atrial Fibrillation

Authors Pronto JRD, Mason FE, Rog-Zielinska EA, Fakuade FE, Bülow D, Tóth M, Machwart K, Brandes P, Wiedmann F, Kohlhaas M, Nickel A, Wolf M, Mustroph J, Vu KC, Brandenburg S, Do TQ, Siedler PJ, Ritzenhoff K, Xue Z, Zhou X, Kestel S, Dschun O, Kyshynska O, Kensah G, Rebbeck
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13.10.2025

Peroxisome protein import deficiency causes heart failure in mouse and human

Authors Hofhuis J, Tiburcy M, Hartmann Y, Bersch K, Wagdi A, Gutiérrez-Gutiérrez O, Solano R, Thiele L, Walper M, Göbel M, Hübner W, Berecic B, Casini M, Tirilomis P, Unger A, Lipstein N, Sossalla S, Huser T, Streckfuss-Bömeke K, Elkenani M, Toischer K, Kohlhaas M, Dudek J, Zimmermann WH, Voigt
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08.10.2025

Expected and Unexpected “Guests” at the Active Site of Human Orotidine 5′-Monophosphate Decarboxylase

Authors Kirck LL, Santagostino E, Brandhoff L, Simeth NA, Tittmann K Journal Biochemistry Citation Biochemistry. 2025 Oct 8. Abstract With an extraordinary rate enhancement of 1017 compared to the uncatalyzed reaction and no need for a cofactor, orotidine 5′-monophosphate decarboxylase (OMPDC) is considered one of the most efficient enzymes. Its
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