Publications
2026
Genet Med. 27.10.2026. doi: 10.1016/j.gim.2026.102776
Domain-associated phenotypic patterns with MACF1 variants.
Gogate N, Jolly A, Rosenfeld J, Bahena-Carbajal P, Carrasco D, Bernstein J, Bonner D, Busa T, Cristian I, D'Souza P, Friedman J, Gorokhova S, Haaf T, Herman I, Isin U, Jhangiani S, Johnson I, Lenberg J, Macnamara E, Maroofian R, Undiagnosed Diseases Network, Racobaldo M, Redlich O, Tifft C, Tos T, Vona B, Zambrano R, Wentzensen I, Wigby K, Pehlivan D, Gibbs R, Lupski J, Posey J
EMBO Mol Med. 22.10.2026. doi: 10.1038/s44321-026-00541-2
Multichannel optical cochlear implants enable spectrally distinct auditory activity
Albrecht N, Koert E, Vavakou A, Roos L, Jablonski L, Marcoleta JP, Cardona Audi J, Alfken J, Klein E, Ruther P, Mager T, Kusch K, Moser T
J Cell Biol, Vol. 225, Issue 9. 07.09.2026. doi: 10.1083/jcb.202509110
The missing link: Piccolino is essential for tethering synaptic vesicles to rod photoreceptor ribbons
Gierke K, Gadomska M, Breuer J, Bahr JN, Müller TM, Ehnis H, Zobel S, Mejia Villagran N, Kirsch SA, Skrzypek A, Frischknecht R, Fejtová A, Böckmann RA, Wichmann C, Regus-Leidig H, Brandstätter JH
Adv Sci (Weinh). 06.09.2026. doi: 10.1002/advs.77543
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss
Hale EB, Vona B, Goodyear RJ, Osgood RT, Shen J, Amr SS, Mojica K, Hofrichter MAH, Schröder J, Flandin S, Gratias P, Vera-Monroy R, Callahan K, Gudlewski KL, Quadros R, Ohtsuka M, McGee J, Walsh EJ, Morton CC, Haaf T, Gurumurthy C, Saunders JE, Richardson GP, Indzhykulian AA
medRxiv. 01.09.2026. doi: 10.64898/2026.08.27.26360298
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.
Efthymiou S, Tabata K, Dafsari H, Schober E, Latza C, Isaoğlu M, Abuelrub A, Rad A, Firoozfar Z, Turchetti V, Lin R, Maroofian R, Wiethoff S, Afzal E, Zafar F, Rana N, McRae A, Kaiyrzhanov R, Guliyeva U, Gulieva S, Melikishvili G, Lespinasse J, Vitobello A, Denommé-Pichon A, Wentzensen I, Mefford H, Briere L, Walker M, High F, Sweetser D, Kendall M, Franchi M, Brown M, Latner D, Joset P, Ivanovski I, Alfadhel M, Alluhaydan I, Frederiksen A, Arriens V, Hanker B, Mankad K, Guerin J, Durdağı S, Vona B, Jungbluth H, Antebi A, Yoshimori T, Houlden H
Eur J Hum Genet. 29.07.2026. doi: 10.1038/s41431-026-02206-7
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery
Najarzadeh Torbati P, Hallbrucker L, Hofrichter MAH, Owrang D, Setzke J, Kilimann MW, Hemmatpour A, Rajati M, Ghayoor Karimiani E, Haaf T, Vogl C, Vona B
Commun Med (Lond), Vol. 6, Issue 1. 30.05.2026. doi: 10.1038/s43856-026-01650-2
A comparative survey of functional evidence use in hearing and vision loss genetics
Inan RA, DiStefano MT, Amr SS, Beißbarth T, Starita LM, Stergachis AB, Abou Tayoun A, Hufnagel RB, Vona B
Structure, Vol. 34, Issue 5. 07.05.2026. doi: 10.1016/j.str.2026.02.017
A correlative workflow for synaptic imaging by cryo-electron tomography
Do TT, Siegert A, Domart F, Hahn F, Zeising C, Muth S, Pape C, Kusch K, Dresbach T, Rizzoli SO, Petrovic A, Fernández-Busnadiego R
bioRxiv. 04.05.2026. doi: 10.64898/2026.04.16.718620
The vacuolar tauopathy-associated mutation D395G confers redox sensitivity to p97/VCP
Rout SR, Kulke M, Droemer M, Wendel M, Cheng TC, Mauck TA, Asgari S, Nemec AA, Shein M, Sato Y, Fukai S, Witte G, Tomko Jr. RJ, Stengel F, Zacharias M, Schuetz AK, Sakata E
Nat Commun, Vol. 17, Issue 1. 15.04.2026. doi: 10.1038/s41467-026-71351-w
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BH, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Anjum MN, Saeed A, Cheema HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Başak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR, Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H
Mol Med, Vol. 32, Issue 1. 07.04.2026. doi: 10.1186/s10020-026-01431-6
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Koparir A, Carbajal PB, Zamini M, Naghinejad M, Najarzadeh Torbati P, Hofrichter MAH, Tovornik S, Koparir E, Dragicevic Babic N, Rad A, Owrang D, Kalay I, Chamanrou N, Martinez Völter LN, Christophersen N, Baranzehi T, Rajati M, Loum S, Kunstmann E, Shadab M, Abbasi AA, Doosti M, Alidadiani N, Ghaderi S, Haack TB, Alavi S, Doll J, Kremer H, Kordi-Tamandani DM, Murphy D, Mohammad R, Hebestreit H, Ghayoor Karimiani E, Flandin S, Linares P, Villalobos D, Houlden H, Galehdari H, Shehata-Dieler W, Maroofian R, Haaf T, Vona B
Neuron, Vol. 114, Issue 7. 01.04.2026. doi: 10.1016/j.neuron.2025.12.014
Two-photon voltage imaging with rhodopsin-based sensors
Grimm C, Sims RR, Tanese D, Mohamed Lafirdeen AS, Bendifallah I, Chan CY, Faini G, Putti E, Del Bene F, Papagiakoumou E, Emiliani V
medRxiv. 30.03.2026. doi: 10.64898/2026.03.27.26349271
FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss
Liedtke D, Rak K, Schrode KM, Hehlert P, Chamanrou N, Bengl D, Katana R, Heydaran S, Doll J, Han M, Nanda I, Senthilan PR, Jürgens L, Bieniussa L, Voelker J, Neuner C, Hofrichter MAH, Schröder J, Schellens RTW, de Vrieze E, van Wijk E, Zechner U, Herms S, Hoffmann P, Müller T, Dittrich M, Bartsch O, Krawitz PM, Klopocki E, Shehata-Dieler W, Maroofian R, Wang T, Worley PF, Göpfert MC, Galehdari H, Lauer AM, Haaf T, Vona B
Sci Rep, Vol. 16, Issue 1. 26.03.2026. doi: 10.1038/s41598-026-42800-9
Dysferlin stabilizes membrane nanodomains of cardiomyocytes after myocardial infarction
Wegener JB, Zühlke Y, Fleischhacker C, Marks J, Foo B, Bader N, Riedemann GC, Wedemeyer J, Vu KC, Vergel Leon AM, Paulke NJ, Kohl T, Urlaub H, Schmidt C, Hasenfuß G, Moser T, Rog-Zielinska EA, Lenz C, Lehnart SE, Brandenburg S
Sci Rep, Vol. 16, Issue 1. 23.03.2026. doi: 10.1038/s41598-026-43836-7
Persistence of vestibular function in the absence of glutamatergic transmission from hair cells
Mukhopadhyay M, Modgekar R, Yang-Hood A, Ohlemiller KK, Militchin V, Xiao M, Shen Z, Rensing NR, Wong M, Lee SJ, Seal RP, Holt JC, Warchol ME, Maloney SE, Yuede CM, Rutherford MA, Pangrsic T
Am J Hum Genet, Vol. 113, Issue 2. 05.02.2026. doi: 10.1016/j.ajhg.2025.12.007
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Di Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunström S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh TC, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S
MedRxiv. 28.01.2026. doi: 10.64898/2026.01.28.26344748
XPOT Deficiency causes a human disorder through impaired tRNA nuclear export
von Hardenberg S, Niehaus I, Wiemers A, Rothoeft T, Huang K, Petree C, Schäffer V, Phillipe C, Bruel AL, Warnatz K, Zamani M, Ahmadi R, Sedaghat A, Bahram S, Sedighzadeh S, Ebrahimi S, Khalilian S, Landwehr-Kenzel S, Schwerk N, Elsayed A, Rösler J, Lin SJ, Sabu S, Strenzke N, Sogkas G, Vona B, Varshney GK, Di Donato N, Auber B
Med, Vol. 7, Issue 1. 09.01.2026. doi: 10.1016/j.medj.2025.100886
International Expert Consensus on Gene Therapy for Hereditary Hearing Loss: Based on Clinical Trials
Fan X, Gao Z, Zhong J, Chen Y, Chen X, Landegger LD, Moser T, Zeng FG, Sun Y, Jin X, Nash R, Chien WW, Jiang D, Greinwald JH, Bance M, Rodríguez MM, Lee SY, Feng G, Yang H, Wu CC, Xu L, Yuan W, Feng Y, Zhao Y, Vona BC, Strenzke N, Beutner D, Amin N, Arwyn-Jones J, Chandrasekeharan D, Shi D, Zhang D, Yang J, Qi J, Wang Q, Yin Y, Cheng YF, Tao Y, Yu Y, Wang D, Jiang L, Guo L, Chen L, Cheng X, Cui C, Lv J, Han S, Wang W, Li Y, Gao X, Liu XZ, Zha D, Shi H, Chen B, Wang Q, Yuan H, Yang S, Yin S, Wu H, Wang Z, Li H, Rubinstein JT, Lustig LR, Chai R, Chen ZY, Shu Y
J Biol Chem, Vol. 302, Issue 10. 01.01.2026. doi: 10.1016/j.jbc.2026.113492
Molecular basis for a Ca2+ binding hierarchy in the EF-hand motifs of CaBP2
Motosugi R, Walinda E, Kim T, Mateias AL, Pallinger T, Prajapati S, Morimoto D, Kim M, Rankovic V, Griesinger C, Tittmann K, Pangrsic T, Sakata E
Nat Struct Mol Biol, Vol. 33, Issue 3. 01.01.2026. doi: 10.1038/s41594-026-01772-0
Checking in on proteostasis
Sakata E, Hegde RS, Zhao YG, Ito T, Radford SE, Hatzgolou M, Jakob U, Park E, Lin Y, Deuerling E, Yang P, Choe YJ
EMBO Mol Med, Vol. 18, Issue 2. 01.01.2026. doi: 10.1038/s44321-025-00350-z
Channelrhodopsin variants for high-rate optogenetic neurostimulation at low light intensities
Roos L, Garrido-Charles A, Albrecht N, Vavakou A, Alekseev A, Bleyer M, Thirumalai A, Mittring A, Alvanos T, Huet AT, Bamberg E, Kusch K, Wolf BJ, Moser T, Mager T
Nat Biomed Eng, Vol. 10, Issue 2. 01.01.2026. doi: 10.1038/s41551-025-01461-1
Efficient and sustained optogenetic control of sensory and cardiac systems
Alekseev A, Hunniford V, Zerche M, Jeschke M, El May F, Vavakou A, Siegenthaler D, Hüser MA, Kiehn SM, Garrido-Charles A, Meyer A, Rambousky A, Alvanos T, Witzke I, Rojas-Garcia KD, Draband MD, Cyganek L, Klein E, Ruther P, Huet A, Trenholm S, Macé E, Kusch K, Bruegmann T, Wolf BJ, Mager T, Moser T
2025
Elife, Vol. 14. 20.10.2025. doi: 10.7554/elife.103481
Probing the role of synaptic adhesion molecule RTN4RL2 in setting up cochlear connectivity
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
Sci Adv, Vol. 11, Issue 42. 17.10.2025. doi: 10.1126/sciadv.ady8532
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing
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
Am J Hum Genet, Vol. 112, Issue 10. 02.10.2025. doi: 10.1016/j.ajhg.2025.08.010
A clinical and genotype-phenotype analysis of MACF1 variants
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS
Mol Biol Cell, Vol. 36, Issue 10. 01.10.2025. doi: 10.1091/mbc.E24-11-0519
SynapseNet: Deep Learning for Automatic Synapse Reconstruction
Muth S, Moschref F, Freckmann L, Mutschall S, Hojas-Garcia-Plaza I, Bahr JN, Petrovic A, Do TT, Schwarze V, Archit A, Weyand K, Michanski S, Maus L, Imig C, Hintze A, Brose N, Wichmann C, Fernandez-Busnadiego R, Moser T, Rizzoli SO, Cooper BH, Pape C
Structure, Vol. 33, Issue 9. 04.09.2025. doi: 10.1016/j.str.2025.06.006
Structural basis for no retinal binding in flotillin-associated rhodopsins
Kovalev K, Stetsenko A, Trunk F, Marin E, Haro-Moreno JM, Lamm GHU, Alekseev A, Rodriguez-Valera F, Schneider TR, Wachtveitl J, Guskov A
Sci Adv, Vol. 11, Issue 27. 04.07.2025. doi: 10.1126/sciadv.adv1015
CryoRhodopsins: A comprehensive characterization of a group of microbial rhodopsins from cold environments
Lamm GHU, Marin E, Alekseev A, Schellbach AV, Stetsenko A, Haro-Moreno JM, Bourenkov G, Borshchevskiy V, Asido M, Agthe M, Engilberge S, Rose SL, Caramello N, Royant A, Schneider TR, Bateman A, Mager T, Moser T, Rodriguez-Valera F, Wachtveitl J, Guskov A, Kovalev K
medRxiv. 28.06.2025. doi: 10.1101/2025.06.26.25330137
Domain specific phenotypic expansion associated with variants in MACF1
Gogate N, Jolly A, Rosenfeld JA, Bahena-Carbajal P, Bernstein JA, Bonner D, Busa T, Cristian I, D'Souza P, Friedman J, Gorokhova S, Haaf T, Herman I, Isin UU, Jhangiani SN, Johnson I, Lenberg J, Macnamara EF, Maroofian R, Undiagnosed Diseases Network, Racobaldo M, Redlich OL, Tifft C, Tos T, Vona B, Zambrano RM, Wentzensen IM, Wigby K, Pehlivan D, Gibbs RA, Lupski JR, Posey JE
Sci Adv, Vol. 11, Issue 25. 20.06.2025. doi: 10.1126/sciadv.adu7898
Gating of hair cell Ca2+ channels governs the activity of cochlear neurons
Karagulyan N, Thirumalai A, Michanski S, Qi Y, Fang Q, Wang H, Ortner NJ, Striessnig J, Strenzke N, Wichmann C, Hua Y, Moser T
Npj Imaging, Vol. 3, Issue 1. 20.05.2025. doi: 10.1038/s44303-025-00086-y
3D imaging of the human temporal bone by X-ray phase-contrast tomography
Schaeper JJ, Tafforeau P, Kampshoff CA, Thomas C, Meyer A, Stadelmann C, Liberman MC, Moser T, Salditt T
Am J Hum Genet, Vol. 112, Issue 5. 01.05.2025. doi: 10.1016/j.ajhg.2025.03.015
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D
Sci Adv, Vol. 11, Issue 17. 25.04.2025. doi: 10.1126/sciadv.ads4661
Synaptophysin accelerates synaptic vesicle fusion by expanding the membrane upon neurotransmitter loading
Preobraschenski J, Kreutzberger AJB, Ganzella M, Münster-Wandowski A, Kreutzberger MAB, Oolsthorn LHM, Seibert S, Kiessling V, Riedel D, Witkowska A, Ahnert-Hilger G, Tamm LK, Jahn R
Mol Diagn Ther, Vol. 29, Issue 4. 01.01.2025. doi: 10.1007/s40291-025-00782-w
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B
Genet Med, Vol. 27, Issue 5. 01.01.2025. doi: 10.1016/j.gim.2025.101392
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS
Nat Struct Mol Biol, Vol. 32, Issue 8. 01.01.2025. doi: 10.1038/s41594-025-01488-7
Ion-conducting and gating molecular mechanisms of channelrhodopsin revealed by true-atomic-resolution structures of open and closed states
Zabelskii D, Bukhdruker S, Bukhalovich S, Tsybrov F, Lamm GHU, Astashkin R, Doroginin D, Matveev G, Sudarev V, Kuzmin A, Zinovev E, Vlasova A, Ryzhykau Y, Ilyinsky N, Gushchin I, Bourenkov G, Alekseev A, Round A, Wachtveitl J, Bamberg E, Gordeliy V
Nat Cell Biol, Vol. 27, Issue 8. 01.01.2025. doi: 10.1038/s41556-025-01708-8
A programmed decline in ribosome levels governs human early neurodevelopment
Ni C, Wei Y, Vona B, Park D, Wei Y, Schmitz DA, Ding Y, Sakurai M, Ballard E, Li L, Liu Y, Kumar A, Xing C, Qin S, Kim S, Foglizzo M, Zhao J, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Ramzan K, Hashmi JA, Alluqmani MM, Basit S, Veltra D, Marinakis NM, Niotakis G, Vorgia P, Sofocleous C, Lee H, Jeong WC, Umair M, Bilal M, Alves CAPF, Sieber M, Kruer M, Houlden H, Alkuraya FS, Zeqiraj E, Greenberg RA, Cenik C, Yu L, Maroofian R, Wu J, Buszczak M
J Physiol, Vol. 603, Issue 20. 01.01.2025. doi: 10.1113/JP286400
The synaptic vesicle cluster as a controller of pre- and postsynaptic structure and function
Reshetniak S, Bogaciu CA, Bonn S, Brose N, Cooper BH, D'Este E, Fauth M, Fernández-Busnadiego R, Fiosins M, Fischer A, Georgiev SV, Jakobs S, Klumpp S, Köster S, Lange F, Lipstein N, Macarrón-Palacios V, Milovanovic D, Moser T, Müller M, Opazo F, Outeiro TF, Pape C, Priesemann V, Rehling P, Salditt T, Schlüter O, Simeth N, Steinem C, Tchumatchenko T, Tetzlaff C, Tirard M, Urlaub H, Wichmann C, Wolf F, Rizzoli SO
Nat Biotechnol, Vol. 43, Issue 9. 01.01.2025. doi: 10.1038/s41587-024-02431-9
One-step nanoscale expansion microscopy reveals protein shapes using conventional microscopes
Shaib AH, Chouaib AA, Chowdhury R, Altendorf J, Mihaylov D, Zhang C, Krah D, Imani V, Spencer RKW, Georgiev SV, Mougios N, Monga M, Reshetniak S, Mimoso T, Chen H, Fatehbasharzad P, Crzan D, Saal KA, Alawiech MM, Alawar N, Eilts J, Kang J, Soleimani A, Müller M, Pape C, Alvarez L, Trenkwalder C, Mollenhauer B, Outeiro TF, Köster S, Preobraschenski J, Becherer U, Moser T, Boyden ES, Aricescu AR, Sauer M, Opazo F, Rizzoli SO
Genet Med, Vol. 27, Issue 2. 01.01.2025. doi: 10.1016/j.gim.2024.101278
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Hashem AMA, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH
2024
Genes (Basel), Vol. 15, Issue 9. 13.09.2024. doi: 10.3390/genes15091203
A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
Akram R, Anwar H, Muzaffar H, Turchetti V, Lau T, Vona B, Makhdoom EUH, Iqbal J, Mahmood Baig S, Hussain G, Efthymiou S, Houlden H
Circ Res, Vol. 135, Issue 5. 16.08.2024. doi: 10.1161/CIRCRESAHA.124.324588
Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy
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Brain, Vol. 147, Issue 5. 03.05.2024. doi: 10.1093/brain/awae010
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
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Nat Commun, Vol. 15, Issue 1. 10.04.2024. doi: 10.1038/s41467-024-47469-0
A subgroup of light-driven sodium pumps with an additional Schiff base counterion
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Brain, Vol. 147, Issue 4. 04.04.2024. doi: 10.1093/brain/awad380
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
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Protein Cell, Vol. 15, Issue 4. 01.04.2024. doi: 10.1093/procel/pwad058
Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T
Nat Commun, Vol. 15, Issue 1. 13.03.2024. doi: 10.1038/s41467-024-46354-0
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
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Angew Chem Int Ed Engl, Vol. 63, Issue 11. 11.03.2024. doi: 10.1002/anie.202307555
Channelrhodopsin-2 Oligomerization in Cell Membrane Revealed by Photo-Activated Localization Microscopy
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Mol Ther, Vol. 32, Issue 3. 06.03.2024. doi: 10.1016/j.ymthe.2024.01.021
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
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Nat Commun, Vol. 15, Issue 1. 02.01.2024. doi: 10.1038/s41467-023-44548-6
Hijacking of internal calcium dynamics by intracellularly residing viral rhodopsins
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Hum Genet, Vol. 143, Issue 3. 01.01.2024. doi: 10.1007/s00439-024-02649-2
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
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Eur J Hum Genet, Vol. 32, Issue 6. 01.01.2024. doi: 10.1038/s41431-024-01562-6
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
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Nat Chem, Vol. 16, Issue 3. 01.01.2024. doi: 10.1038/s41557-024-01440-0
Characterizing ATP processing by the AAA+ protein p97 at the atomic level
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Mol Neurobiol, Vol. 61, Issue 7. 01.01.2024. doi: 10.1007/s12035-023-03865-z
Light-Driven Sodium Pump as a Potential Tool for the Control of Seizures in Epilepsy
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Genet Med, Vol. 26, Issue 3. 01.01.2024. doi: 10.1016/j.gim.2023.101034
Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder
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Eur J Hum Genet, Vol. 32, Issue 1. 01.01.2024. doi: 10.1038/s41431-023-01461-2
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
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Clin Genet, Vol. 106, Issue 6. 01.01.2024. doi: 10.1111/cge.14599
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
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Genome Med, Vol. 15, Issue 1. 29.11.2023. doi: 10.1186/s13073-023-01258-4
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
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Genome Med, Vol. 15, Issue 1. 09.11.2023. doi: 10.1186/s13073-023-01240-0
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
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Hum Genomics, Vol. 17, Issue 1. 13.10.2023. doi: 10.1186/s40246-023-00539-8
FGFR1 variants contributed to families with tooth agenesis
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RNF40 epigenetically modulates glycolysis to support the aggressiveness of basal-like breast cancer
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Piccolino is required for ribbon architecture at cochlear inner hair cell synapses and for hearing
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Genes (Basel), Vol. 14, Issue 7. 06.07.2023. doi: 10.3390/genes14071404
Genetic investigation of consanguineous Pakistani families segregating rare spinocerebellar disorders
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A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
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Cochlear hair cell innervation is dependent on a modulatory function of semaphorin-3A
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Elife, Vol. 11. 23.12.2022. doi: 10.7554/eLife.79494
Optogenetics and electron tomography for structure-function analysis of cochlear ribbon synapses
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Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
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Neuron, Vol. 110, Issue 9. 04.05.2022. doi: 10.1016/j.neuron.2022.02.008
Colocalization of different neurotransmitter transporters on synaptic vesicles is sparse except for VGLUT1 and ZnT3
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White matter integrity requires continuous myelin synthesis at the inner tongue in mice
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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
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GGPS1-associated muscular dystrophy with and without hearing loss
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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
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Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
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How does hearing work?
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Ultrafast optogenetic stimulation of the auditory pathway by targeting-optimized Chronos
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J Cell Biol, Vol. 217, Issue 11. 05.11.2018. doi: 10.1083/jcb.201704076
Cytomatrix proteins CAST and ELKS regulate retinal photoreceptor development and maintenance
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Nat Commun, Vol. 9, Issue 1. 01.05.2018. doi: 10.1038/s41467-018-04146-3
High frequency neural spiking and auditory signaling by ultrafast red-shifted optogenetics
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Sci Rep, Vol. 8, Issue 1. 21.03.2018. doi: 10.1038/s41598-018-23144-5
Propagation-based phase-contrast x-ray tomography of cochlea using a compact synchrotron source
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Hum Genet, Vol. 137, Issue 3. 01.01.2018. doi: 10.1007/s00439-017-1862-z
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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Elife, Vol. 7. 12.01.2018. doi: 10.7554/eLife.29275
The synaptic ribbon is critical for sound encoding at high rates and with temporal precision
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EMBO J, Vol. 37, Issue 1. 04.01.2018. doi: 10.15252/embj.201695709
Glyoxal as an alternative to PFA in immunostainings and nanoscopy
Richter KN, Revelo NH, Seitz KJ, Helm MS, Sarkar D, Saleeb R, D'Este E, Eberle J, Wagner E, Vogl C, Lazaro DF, Richter F, Vegara JC, Coceano G, Boyden E, Duncan R, Hell SW, Lauterbach M, Lehnart SE, Moser T, Outeiro T, Rehling P, Schwappach B, Testa I, Zapiec B, Rizzoli SO
Front Physiol, Vol. 9. 01.01.2018. doi: 10.3389/fphys.2018.01227
Axial Tubule Junctions Activate Atrial Ca2+ Release across Species
Brandenburg S, Pawlowitz J, Fakuade FE, Kownatzki-Danger D, Kohl T, Mitronova GY, ScardigliM, Neef J, Schmidt C, Wiedmann F, Pavone F, Sacconi L, Kutschka I, Sossalla ST, Moser T, Voigt N, Lehnart SE
2017
Proc Natl Acad Sci U S A, Vol. 114, Issue 9. 28.02.2017. doi: 10.1073/pnas.1617533114
Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells
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EMBO Rep, Vol. 18, Issue 11. 01.01.2017. doi: 10.15252/embr.201643689
The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing
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2016
EMBO J, Vol. 35, Issue 23. 01.12.2016. doi: 10.15252/embj.201694564
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants
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EMBO J, Vol. 35, Issue 23. 01.12.2016. doi: 10.15252/embj.201593565
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing
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Hum Mutat, Vol. 37, Issue 8. 01.01.2016. doi: 10.1002/humu.22999
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined With a Mutation Classification System
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2015
EMBO J, Vol. 34, Issue 21. 03.11.2015. doi: 10.15252/embj.201591885
Disruption of adaptor protein 2µ (AP-2µ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing
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Proc Natl Acad Sci U S A, Vol. 112, Issue 24. 16.06.2015. doi: 10.1073/pnas.1417207112
Rab3-interacting molecules 2α and 2β promote the abundance of voltage-gated CaV1.3 Ca2+ channels at hair cell active zones
Jung S, Oshima-Takago T, Chakrabarti R, Wong AB, Jing Z, Yamanbaeva G, Picher MM, Wojcik SM, Göttfert F, Predoehl F, Michel K, Hell SW, Schoch S, Strenzke N, Wichmann C, Moser T
2014
Neuron, Vol. 83, Issue 6. 17.09.2014. doi: 10.1016/j.neuron.2014.08.003
Uniquantal Release through a Dynamic Fusion Pore Is a Candidate Mechanism of Hair Cell Exocytosis
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J Neurosci, Vol. 34, Issue 3. 15.01.2014. doi: 10.1523/JNEUROSCI.3313-13.2014
Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells
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J Clin Invest, Vol. 124, Issue 3. 01.01.2014. doi: 10.1172/JCI69050
Optogenetic stimulation of the auditory pathway
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2013
Nat Commun, Vol. 4. 01.01.2013. doi: 10.1038/ncomms2445
Ephrin-A5/EphA4 signalling controls specific afferent targeting to cochlear hair cells
Defourny J, Poirrier AL, Lallemend F, Mateo Sánchez S, Neef J, Vanderhaeghen P, Soriano E, Peuckert C, Kullander K, Fritzsch B, Nguyen L, Moonen G, Moser T, Malgrange B
2012
Am J Hum Genet, Vol. 91, Issue 5. 02.11.2012. doi: 10.1016/j.ajhg.2012.09.002
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss
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Am J Hum Genet, Vol. 91, Issue 4. 05.10.2012. doi: 10.1016/j.ajhg.2012.08.018
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
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J Neurosci, Vol. 32, Issue 35. 29.08.2012. doi: 10.1523/JNEUROSCI.0752-12.2012
Deletion of the presynaptic scaffold CAST reduces active zone size in rod photoreceptors and impairs visual processing
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J Neurosci, Vol. 31, Issue 13. 30.03.2011. doi: 10.1523/JNEUROSCI.5122-10.2011
Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis
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Proc Natl Acad Sci U S A, Vol. 108, Issue 7. 15.02.2011. doi: 10.1073/pnas.1006946108
Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina
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2010
Nat Neurosci, 13(7). 01.01.2010. doi: 10.1038/nn.2578
Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells.
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Nat Neurosci, 12(4). 01.01.2009. doi: 10.1038/nn.2293
Tuning of synapse number, structure and function in the cochlea.
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HNO, Vol. 54. 01.11.2006. doi: 10.1007/s00106-006-1450-3
Diagnosis and therapy of auditory synaptopathy/neuropathy
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Expression pattern and functional characterization of connexin29 in transgenic mice
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CSPalpha-deficiency causes massive and rapid photoreceptor degeneration
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