Publications
2025
EMBO Mol Med. 2025 Dec 9
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
Med. 2025 Oct 23:100886. 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
eLife. 2025 Oct 20;14:RP103481. 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. 17 Oct 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. 2025 Oct 2; 2363-2380. 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. 2025 Aug 28:mbcE24110519. 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
medRxiv [Preprint]. 2025 Aug 14:2025.08.13.25333146. doi:
10.1101/2025.08.13.25333146
The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a
Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice
Hale EB, Vona B, Goodyear RJ, Osgood RT, Amr SS, Mojica K,
Vera-Monroy R, Callahan K, Gudlewski KL, Quadros R, Ohtsuka M, McGee J,
Walsh
EJ, Morton CC, Gurumurthy C, Saunders JE, Richardson GP, Indzhykulian AA
Nat Cell Biol. 2025 Aug 4. 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
Nat Biomed Eng. 2025 Jul 28. 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
Structure. 2025 Jul 10:S0969-2126(25)00222-9. 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. 2025 Jul 4;11(27):eadv1015. 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 Jun 28. doi:
10.1101/2025.06.26.25330137. Preprint
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. 2025, Jun 20;11(25):eadu7898. 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
Mol Diagn Ther. 2025 May 16. 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
bioRxiv. 2025 May 11. doi: 10.1101/2025.05.10.653085,
Preprint
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, Kibédi CZ, Pena V, Pape C,
Grubmüller H, Strenzke N, Brose N, Wichmann C, Preobraschenski J, Moser T
Am J Hum Genet. 2025 May 1;112(5):1117-1138.. 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
Genet Med. 2025 May;27(5):101392.. 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; ClinGen Hearing Loss Clinical Domain Working Group
Sci Adv. 2025 Apr 25;11(17):eads4661. 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
Nat Struct Mol Biol. 2025 Apr 9. 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
2024
J Physiol. 2024 Oct 5. 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. 2024 Oct 9. doi: 10.1038/s41587-024-02431-9. Epub ahead of
print.
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, Alawieh
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. 2024 Sep 20:101278. 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
Genes (Basel). 2024 Sep 13;15(9):1203. 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
Clin Genet. 2024 Aug 6th. doi: 10.1111/cge.14599, Epub ahead of
print
Genetic
landscape of hearing loss in prelingual deaf patients of eastern Iran:
Insights
from exome sequencing analysis
Alerasool M, Eslahi A, Vona B, Kahaei MS, Mojaver NK,
Rajati M,
Pasdar A, Ghasemi MM, Saburi E, Ardehaie RM, Aval MH, Tale MR, Nourizadeh N,
Afzalzadeh MR, Niknezhad HT, Mojarrad M
medRxiv. 2024 Jul 22nd. doi: 10.1101/2024.07.18.24310581, Preprint
Biallelic pathogenic variants in TRMT1 disrupt tRNA
modification and induce a syndromic neurodevelopmental disorder
Efthymiou S, Leo CP, Deng C, Zhang K, Lin S-J, Maroofian R,
Kaiyrzhanov R, Lin R, Karagoz I, Scardamaglia A, Owrang D, Turchetti V,
Jahnke
F, CPetree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont M-L,
Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow M, Carere
A,
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, VBothe V,
Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson A-C, Matsson H,
Frykholm C, Bozdoğan ST, Bişgin 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, Nourbakhshd P, Chamanrou N, Chung S-K, Suri M, Benke PJ,
Zaki
MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A,
Abumansour
IS, Oprea G, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu
D
Circ Res. 2024 Jul 16th, 135(5):554-574. doi: 10.1161/CIRCRESAHA.124.324588
Dysferlin
Enables Tubular Membrane Proliferation in Cardiac Hypertrophy
Paulke NJ, Fleischhacker C, Wegener JB, Riedemann GC, Cretu
C,
Mushtaq M, Zaremba N, Möbius W, Zühlke Y, Wedemeyer J, Liebmann L, Gorshkova
AA,
Kownatzki-Danger D, Wagner E, Kohl T, Wichmann C, Jahn O, Urlaub H, Toischer
K,
Hasenfuß G, Moser T, Preobraschenski J, Lenz C, Rog-Zielinska EA, Lehnart
SE,
Brandenburg S
medRxiv. 2024 Jun 20th. doi: 10.1101/2024.06.19.24308302, Preprint
PSMF1 variants cause a phenotypic spectrum from
early-onset Parkinson’s disease to perinatal lethality by disrupting
mitochondrial pathways
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A,
Rodriguez JA, Scardamaglia A, Chung BH-Y, Jaconelli M, Vona B, Esteras N,
Kwong
AK-Y, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA,
Efthymiou S, O’Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld
GJ,
Chui MM-C, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S,
Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B,
Obeso
JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B,
Barišić
N, Ng EW-S, Fan S-S, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja
IA,
Froukh T, Alrukban HAE, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K,
Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack
TB,
Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY,
Bhatia KP, Houlden H
Nat Commun. 2024 Apr 10, 15(1):3119. doi:
10.1038/s41467-024-47469-0
A subgroup
of
light-driven sodium pumps with an additional Schiff base counterion
Podoliak E, Lamm GHU, Marin E, Schellbach AV, Fedotov DA,
Stetsenko A, Asido M, Maliar N, Bourenkov G, Balandin T, Baeken C, Astashkin
R,
Schneider TR, Bateman A, Wachtveitl J, Schapiro I, Busskamp V, Guskov A,
Gordeliy V, Alekseev A, Kovalev K
Protein Cell. 2024 Apr 1st, 15(4):305-312. 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,
Netto
RCM, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C,
Strenzke N, Vona B, Preobraschenski J, Moser T
Nat Commun. 2024 Mar 13th, 15(1):2269. doi:
10.1038/s41467-024-46354-0
Biallelic
NAA60
variants with impaired n-terminal acetylation capacity cause autosomal
recessive
primary familial brain calcifications
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L,
Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC,
Quenez
O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S,
Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT,
Pennavaria A,
Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno
De
Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B,
Alajlan
F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul
SH,
Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW,
Horvath
R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G,
SYNaPS
Study Group, Arnesen T, Houlden H
Hum Genet. 2024 Mar 9th, doi: 10.1007/s00439-024-02649-2, Epub ahead of
print
PKHD1L1, a
gene
involved in the stereocilia coat, causes autosomal recessive nonsyndromic
hearing loss
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H,
Morris
T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H,
Indzhykulian AA, Shearer AE, Vona B
Eur J Hum Genet. 2024 Feb 19th. doi: 10.1038/s41431-024-01562-6, Epub ahead
of
print
Genetic
heterogeneity in hereditary hearing loss: Potential role of kinociliary
protein
TOGARAM2
Ramzan M, Zafeer MF, Abad C, Guo S, Owrang D, Alper O,
Mutlu
A, Atik T, Duman D, Bademci G, Vona B, Kalcioglu MT, Walz K, Tekin M
Mol Ther. 2024 Jan 18th, S1525-0016(24)00021-2. doi:
10.1016/j.ymthe.2024.01.021, Online ahead of print
Clarin-2
gene
supplementation durably preserves hearing in a model of progressive hearing
loss
Mendia C, Peineau T, Zamani M, Felgerolle C, Yahiaoui N,
Christophersen N, Papal S, Maudoux A, Maroofian R, Patni P, Nouaille S, Bowl
MR,
Delmaghani S, Galehdari H, Vona B, Dulon D, Vitry S, El-Amraoui A
Angew Chem Int Ed Engl. 2024 Jan 16:e202307555. doi:
10.1002/anie.202307555
Channelrhodopsin-2
Oligomerization in Cell Membrane Revealed by Photo-Activated Localization
Microscopy
Bestsennaia E, Maslov I, Balandin T, Alekseev A, Yudenko A,
Abu
Shamseye A, Zabelskii D, Baumann A, Catapano C, Karathanasis C, Gordeliy V,
Heilemann M, Gensch T, Borshchevskiy V
Brain. 2024 Jan 13th, awae010. doi: 10.1093/brain/awae010, Epub ahead of
print
Novel
loss-of-function variants expand ABCC9-related intellectual disability and
myopathy syndrome
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur
FL,
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2011
Eur J Cell Biol.2011 Oct;90(10):817-24. doi:
10.1016/j.ejcb.2011.05.001.
Connexin32 can
restore hearing in connexin26 deficient mice.
Degen J, Schütz M, Dicke N, Strenzke N, Jokwitz M, Moser T,
Willecke K
J Neurosci. 2011 Mar 30;31(13):4886-95.
doi:10.1523/JNEUROSCI.5122-10.2011.
Probing the
functional equivalence of otoferlin and synaptotagmin 1 in exocytosis.
Reisinger E, Bresee C, Neef J, Nair R, Reuter K, Bulankina A,
Nouvian R, Koch M, Bückers J, Kastrup L, Roux I, Petit C, Hell SW, Brose N, Rhee
JS,
Kügler S, Brigande JV, Moser T
Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):3053-8.
doi:10.1073/pnas.1006946108. Epub 2011 Jan 31.
Neuroligin-4
is
localized to glycinergic postsynapses and regulates inhibition in the retina.
Hoon M, Soykan T, Falkenburger B, Hammer M, Patrizi A, Schmidt
KF,
Sassoè-Pognetto M, Löwel S, Moser T, Taschenberger H, Brose N, Varoqueaux
F
2006 - 2010
Neuron. 2010 Nov 18;68(4):724-38.
doi:10.1016/j.neuron.2010.10.027.
Bassoon and
the
synaptic ribbon organize Ca²+ channels and vesicles to add release sites and
promote
refilling.
Frank T, Rutherford MA, Strenzke N, Neef A, Pangršič T, Khimich
D,
Fejtova A, Gundelfinger ED, Liberman MC, Harke B, Bryan KE, Lee A, Egner A,
Riedel
D, Moser T
Curr Opin Otolaryngol Head Neck Surg. 2010 Oct;18(5):441-6.
doi:10.1097/MOO.0b013e32833e0586. Review.
Structure and
function of cochlear afferent innervation.
Meyer AC, Moser T
Nat Neurosci. 2010 Jul;13(7):869-76. doi: 10.1038/nn.2578.
Hearing
requires
otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells.
Pangrsic T, Lasarow L, Reuter K, Takago H, Schwander M, Riedel
D,
Frank T, Tarantino LM, Bailey JS, Strenzke N, Brose N, Müller U, Reisinger E,
Moser
T
J Neurosci. 2009 Oct 14;29(41):12802-6. doi:
10.1523/JNEUROSCI.3346-09.2009. Review.
Functional
properties of synaptic transmission in primary sense organs.
Singer JH, Glowatzki E, Moser T, Strowbridge BW, Bhandawat V,
Sampath AP
J Neurosci. 2009 Jun 24;29(25):7991-8004. doi:
10.1523/JNEUROSCI.0632-09.2009.
Complexin-I is
required for high-fidelity transmission at the endbulb of Held auditory synapse.
Strenzke N, Chanda S, Kopp-Scheinpflug C, Khimich D, Reim K,
Bulankina AV, Neef A, Wolf F, Brose N, Xu-Friedman MA, Moser T
Nat Neurosci. 2009 Apr;12(4):444-53.
doi:10.1038/nn.2293.
Tuning of
synapse
number, structure and function in the cochlea.
Meyer AC, Frank T, Khimich D, Hoch G, Riedel D, Chapochnikov
NM,
Yarin YM, Harke B, Hell SW, Egner A, Moser T
Cell Tissue Res. 2006 Nov;326(2):347-59. Review.
Hair cell
ribbon
synapses.
Moser T, Brandt A, Lysakowski A
HNO. 2006 Nov;54(11):833-9. Review. German.
Diagnosis and
therapy of auditory synaptopathy/neuropathy.
Moser T, Strenzke N, Meyer A, Lesinski-Schiedat A, Lenarz T,
Beutner D, Foerst A, Lang-Roth R, von Wedel H, Walger M, Gross M, Keilmann A,
Limberger A, Steffens T, Strutz J
Glia. 2006 Apr 15;53(6):601-11.
Expression
pattern
and functional characterization of connexin29 in transgenic mice.
Eiberger J, Kibschull M, Strenzke N, Schober A, Büssow H,
Wessig C,
Djahed S, Reucher H, Koch DA, Lautermann J, Moser T, Winterhager E, Willecke
K
Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2926-31.
CSPalpha-deficiency causes massive and rapid photoreceptor
degeneration.
Schmitz F, Tabares L, Khimich D, Strenzke N, de la Villa-Polo
P,
Castellano-Muñoz M, Bulankina A, Moser T, Fernández-Chacón R, Südhof TC
2001 - 2005
Neuron. 2001 Aug 30;31(4):581-91.
Munc18-1
promotes
large dense-core vesicle docking.
Voets T, Toonen RF, Brian EC, de Wit H, Moser T, Rettig J,
Südhof
TC, Neher E, Verhage M
1995 - 2000
