Publications
2024
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
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
BioRxi. 2024 Jan 17th. doi: 10.1101/2024.01.15.575777.
Preprint
CryoRhodopsins: a comprehensive characterization of a new clade
of microbial rhodopsins from cold environments
Lamm GHU, Marin E, Schellbach AV, Stetsenko A, Alekseev A,
Bourenkov G, Borshchevskiy V, Asido M, Agthe M, Engilberge S, Rose SL, Caramello
N, Royant A, Schneider TR, Bateman A, Mager T, Moser T, Wachtveitl J, Guskov A,
Kovalev K
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,
Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R,
Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV,
Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut
É, Nichols CG, Smeland MF, McClenaghan C
BioRxiv. 2024 Jan 11th. doi: 10.1101/2024.01.09.574708.
Preprint
An inappropriate decline in ribosome levels drives a diverse
set of neurodevelopmental disorders
Ni C, Yu L, Vona B, Park D, Wie Y, Schmitz DA, Wie Y, Ding Y,
Sakurai M, Ballard E, Liu Y, Ashwani Kumar A, Xing C, Kim H-G, Ekmekci C,
Karimiani EG, Imannezhad S, Eghbal F, Shervin Badv R, Schwaibold EMC, Dehghani
M, Vahidi Mehrjardi MY, Metanat Z, Eslamiyeh H, Khouj E, Nasser Alhajj SM,
Chedrawi A, Ferreira Alves CA, Houlden H, Kruer M, Alkuraya FS, Cenik C,
Maroofian R, Wu J, Buszczak M
Nat Commun. 2024 Jan 2nd, 15(1):65. doi: 10.1038/s41467-023-44548-6
Hijacking of
internal calcium dynamics by intracellularly residing viral rhodopsins
Eria-Oliveira AS, Folacci M, Chassot AA, Fedou S, Thézé N,
Zabelskii D, Alekseev A, Bamberg E, Gordeliy V, Sandoz G, Vivaudou M
2023
Protein Cell. 2023 Dec 8th, pwad058. doi: 10.1093/procel/pwad058, Online ahead
of print
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
Genet Med. 2023 Dec 3rd, 101034. doi: 10.1016/j.gim.2023.101034
Biallelic variants in SLC4A10 encoding the sodium-dependent
chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani
EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R,
Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Jakhondian J, Babaei M, Hashemi
N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L,
Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden
H, Hübner CA
BioRxiv. 2023 Nov 18th. doi: 10.1101/2023.11.17.567544v1,
Preprint
Efficient and sustained optogenetic control of nervous and
cardiac systems
Zerche M, Hunniford V, Alekseev A, El May F, Vavakou A,
Siegenthaler D, Hueser MA, Kiehn SM, Garrido-Charles A, Alvanos T, Witzke I,
Trenholm S, Macé E, Kusch K, Bruegmann T, Wolf BJ, Mager T, Moser T
Eur J Hum Genet. 2023 Oct 26th. doi: 10.1038/s41431-023-01461-2, Online ahead of
print
Bi-allelic
truncating variants in CASP2 underlie a neurodevelopmental disorder with
lissencephaly
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S,
Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi
N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A
Hum Genomics. 2023 Oct 13th, 17 (93). doi: 10.1186/s40246-023-00539-8
FGFR1 variants contributed to families with tooth
agenesis
Yao S, Zhang C, Fan L, Zhou X, Bartsch O, Vona B, Gu M, Zhang
W, Ma L, Pan Y
Cell Death Dis. 2023 Sep 28th, 14(9):641. doi: 10.1038/s41419-023-06157-5
RNF40
epigenetically modulates glycolysis to support the aggressiveness of basal-like
breast cancer
Prokakis E, Jansari S, Boshnakovska A, Wiese M, Kusch K, Kramm
C, Dullin C, Rehling P, Glatzel M, Pantel K, Wikman H, Johnsen SA, Gallwas J,
Wegwitz F
Front Cell Dev Biol. 2023 Aug 10th, Vol 11. doi:
10.3389/fcell.2023.1178992
Age-dependent structural reorganization of utricular ribbon
synapses
Michanski S, Henneck T, Mukhopadhyay M, Steyer AM, Gonzalez
PA, Grewe K, Ilgen P, Gültas M, Fornasiero EF, Jakobs S, Möbius W, Vogl C,
Pangršič T, Rizzoli SO, Wichmann C
EMBO rep. 2023 Jul 21st, e56702. doi: 10.15252/embr.202256702
Piccolino is required for ribbon architecture at cochlear inner
hair cell synapses and for hearing
Michanski S, Kapoor R, Steyer A, Möbius W, Früholz I, Ackermann
F, Gültas M, Garner CC, Hamra FK, Neef J, Strenzke N, Moser T, Wichmann C
Genes (Basel). 2023 Jul 6th, 14(7):1404. doi: 10.3390/genes14071404
Genetic
investigation of consanguineous Pakistani families segregating rare
spinocerebellar disorders
Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher
M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M,
Baig SM, Fatima A, Iqbal Z
Nat Struct Mol Biol. 2023 Jun 29th, 30(7):970-979. doi:
10.1038/s41594-023-01020-9
Mechanisms of inward transmembrane proton translocation
Kovalev K, Tsybrov F, Alekseev A, Shevchenko V, Soloviov D,
Siletsky S, Bourenkov G, Agthe M, Nikolova M, von Stetten D, Astashkin R,
Bukhdruker S, Chizhov I, Royant A, Kuzmin A, Gushchin I, Rosselli R,
Rodriguez-Valera F, Ilyinskiy N, Rogachev A, Borshchevskiy V, Schneider TR,
Bamberg E, Gordeliy V
BioRxiv. 2023 Mar 10th. doi: 10.1101/2022.08.03.502284.
Preprint.
Visualizing proteins by expansion microscopy
Shaib AH, Chouaib AA, Chowdhury R, Mihaylov D, Zhang C, Imani
V, Georgiev SV, Mougios N, Monga M, Reshetniak S, Mimoso T, Chen H,
Fatehbasharzad P, Crzan D, Saal K-A, Alawar N, Eilts J, Kang J, 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
2022
eLife. 2022 December 23rd, 11:e79494. doi: 10.7554/eLife.79494
Optogenetics and
electron tomography for structure-function analysis of cochlear ribbon
synapses
Chakrabarti R, Jaime Tobon LM, Slitin L, Redondo-Canales M,
Hoch G, Slashcheva M, Fritsch E, Bodensiek K, Özcete ÖD, Gültas M, Michanski S,
Opazo F, Neef J, Pangrsic T, Moser T, Wichmann C
BioRxiv. 2022 December 16th. doi: 10.1101/2022.12.15.520589.
Preprint.
Piccolino regulates the architecture of the ribbon at cochlear
inner hair cell synapses
Michanski S, Kapoor R, Steyer AM, Möbius W, Früholz I,
Ackermann F, Gültas M, Garner CC, Hamra FK, Neef J, Strenzke N, Moser T,
Wichmann C
Nature. 2022 November 23th, 611:827-834. doi:
10.1038/s41586-022-05472-9
Regulation of the mammalian-brain V-ATPase through ultraslow
mode-switching
Kosmidis E, Shuttle CG, Preobraschenski J, Ganzella M, Johnson
PJ, Veshaguri S, Holmkvist J, Møller MP, Marantos O, Marcoline F, Grabe M,
Pedersen JL, Jahn R, Stamou D
bioRxiv. 2022 August 5th. doi: 10.1101/2022.08.03.502284.
Preprint.
Expansion microscopy at one nanometer resolution
Shaib AH, Chouaib AA, Imani V, Chowdhury R, Georgiev SV,
Mougios N, Mehar M, Reshetniak S, Mihaylov D, Chen H, Fatehbasharzad P, Crzan D,
Saal K-A, Trenkwalder C, Mollenhauer B, Outiero TF, Preobraschenki J, Becherer
U, Moser T, Boyden ES, Aricescu AR, Sauer M, Opazo F, Rizzoli SO
Annals of Clinical and Translational Neurology. 2022 July 23rd,
9(9):1465-1474. doi: 10.1002/acn3.51633.
GGPS1-associated
muscular dystrophy with and without hearing loss
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo
Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V,
Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi
MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian
R
Human Mutation. 2022 July 21st, 43(10):1472-1489. doi:
10.1002/humu.24435
Biallelic
variants in WARS1 cause a highly variable neurodevelopmental syndrome and
implicate a critical exon for normal auditory function
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y,
Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P,
Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf
T, Pourkarimi E, Kim HG, Varshney GK
Human Mutation. 2022 July 21st, 43(10):1454-1471. doi:
10.1002/humu.24430
WARS1 and SARS1:
two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen N, Krawczyk HE, Jamra RA, Lin S-L, Yigit G,
Hüning I, Molins Polo A, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J,
Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS,
Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, LI Y, Zenker M, Varshney
GK, Hillen HS, Kratz Christian P, Wollnik B
American Journal of Human Genetics. 2022 May 12th,
S0002-9297(22)00158-6. doi: 10.1016/j.ajhg.2022.04.010
Genome-wide
association meta-analysis identifies 48 risk variants and highlights the role of
the stria vascularis in hearing loss
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou
Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI,
Cherny S, Christensen K, Concas MP, Correa A, Elkon R, Estonian Biobank Research
Team, Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V,
Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ,
Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F. Launer LJ, Lee IM,
Leonard H, LI CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC,
Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N,
Rämö J, Saarentaus E, Sardone R, Satizabal Barrera CL, Schweinfurth JM, Seshadri
S, Shiroma E, Shulam E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM,
Sullivan PF, Goedegebure A, Cederroth CT, Williams FMK, Nagtegaal AP
Journal of the European Academy of Dermatology and Venereology.
2022 May 11th, doi: 10.1111/jdv.18207
Biallelic KITLG
variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing
loss
Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB,
Radhakrishnan P, Bozan N, Akin R, Doosti M, Manju R, Duman D, Sineni CJ,
Nampoothriti S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM,
Maroofian R, Douzgou S
bioRxiv. 2022 May 10th. Preprint.
Optogenetics and electron tomography for structure-function
analysis of cochlear ribbon synapses
Chakrabarti R, Jaime Tobón L M, Slitin L, Redondo-Canales, M,
Hoch G, Slashcheva M, Fritsch E, Bodensiek K, Özçete Ö D, Gültas M, Michanski S,
Opazo F, Neef J, Pangršič T, Moser T, Wichmann C
Neuron. 2022 May 4th, 110(9):1483-1497.e7. doi:
10.1016/j.neuron.2022.02.008
Colocalization of
different neurotransmitter transporters on synaptic vesicles is sparse except
for VGLUT1 and ZnT3
Upmanyu N, Jin J, Emde HV, Ganzella M, Bösche L, Malviya VN,
Zhuleku E, Politi AZ, Ninov M, Silbern I, Leutenegger M, Urlaub H, Riedel D,
Preobraschenski J, Milosevic I, Hell SW, Jahn R, Sambandan S
Human Genetics. 2022 March 12th, 141(3-4):431-444. doi:
10.1007/s00439-022-02444-x
Autosomal dominant non-syndromic hearing loss maps to DFNA33
(13q34) and co-segregates with splice and frameshift variants in ATP11A, a
phospholipid flippase gene
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L,
Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani
S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM,
Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB,
Stanton SG, Young TL
eLife. 2022 March 11th, doi: 10.7554/eLife.75523
Progressive
axonopathy when oligodendrocytes lack the myelin protein CMTM5
Buscham T J, Eichel-Vogel M A, Steyer A M, Jahn O, Strenzke N,
Dardawal R, Memhave R T, Siems S B, Müller C. Meschkat M, Sun T, Ruhwedel T,
Möbius W, Krämer-Albers E-M, Boretius S, Nave K-A, Werne H B
Nature Communications. 2022 March 4th, 13:1163. doi:
10.1038/s41467-022-28720-y
White
matter integrity requires continuous myelin synthesis at the inner tongue in
mice
Meschkat M, Steyer A, Weil MT, Kusch K, Jahn O, Piepkorn L,
Agüi-Gonzalez P, Phan N, Ruhwedel T, Sadowski B, Rizzoli S, Werner H, Ehrenreich
H, Nave KA, Möbius W
Orphanet Journal of Rare Diseases. 2022 March 3rd, 17(1):97.
doi: 10.1186/s13023-022-02244-6
Identification
of three novel homozygous variants in COL9A3 causing autosomal recessive
Stickler syndrome
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG,
Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M,
Hashemi N, Vona B, Schmidts M
Nature Communications. 2022 February 11th, 13(1):838. doi:
10.1038/s41467-022-28186-y
Allosteric control of Ubp6 and the proteasome via a
bidirectional switch
Hung KYS, Klumpe S, Eisele MR, Elsasser S, Tian G, Sun S,
Moroco JA, Cheng TC, Joshi T, Seibel T, Van Dalen D, Feng XH, Lu Y, Ovaa H,
Engen JR, Lee BH, Rudack T, Sakata E, Finley D
2021
PNAS. 2021 May 4th, 118 (18) e2014472118. doi:
10.1073/pnas.2014472118
Multiscale photonic imaging of the native and implanted cochlea
Keppeler D, Kampshoff C, Thirumalai A, Duque-Afonso CJ,
Schaeper J, Quilitz T, Töpperwien M, Vogl C, Hessler R, Meyer A, Salditt T,
Moser T
Frontiers in Molecular Neuroscience. 2021 January 7th, 13:253.
doi: 10.3389/fnmol.2020.600051
Overloaded adeno-associated virus as a novel gene therapeutic
tool for otoferlin-related deafness
Rankovic V, Vogl C, Dörje NM, Bahader I, Duque-Afonso CJ,
Thirumalai A, Weber T, Kusch K, Strenzke N, Moser T
2020
Nature Communications 2020 Nov 11;11(1):5707. doi:
10.1038/s41467-020-19457-7
Viral
rhodopsins 1 are an unique family of light-gated cation channels
Zabelski D, Alekseev A, Kovalev K, Rankovic V, Balandin T,
Soloviov D, Bratanov D, Saveljeva E, Podolyak E, Vokov D, Vaganova S, Astashkin
R, Chizov I, Yutin N, Rulev M, Popov A, Eria-Oliveria A-S, Rokitskay T, Mager T,
Antonenko Y, Rosselli R, Armeev G, Shaitan K, Vivaudou M, Büldt G, Rogachev A,
Rodriguez-Valera F, Kripchnikov M, Moser T, Offenhäuser A, Willbold D, Koonin E,
Bamberg E, Gordeliy V
Nature Communications, 2020 Oct 30;11(1):5497. doi:
10.1038/s41467-020-19152-7
A role
of oligodendrocytes in information processing
Moore S, Meschkat M, Ruhwedel T, Trevisiol A, Tzvetanova ID,
Battefeld A, Kusch K, Kole MHP, Strenzke N, Möbius W, de Hoz L, Nave KA
Book chapter in: Ludwig van Beethoven: the Heard and the
Unhearing, edited by Bernhard Richter, Wolfgang Holzgreve, Claudia Spahn,
Herder, ISBN 978-3-451-38871-2, October 2020
How does hearing work?
Moser T
Nature communications, June 25th 2020,
doi.org/10.1038/s41467-020-17003-z
Macromolecular and electrical coupling between inner hair cells
in the rodent cochlea
Jean P, Anttonen T, Michanski S, de Diego AMG, Steyer AM, Neef
A, Oestreicher D, Kroll J, Nardis C, Pangršič T, Möbius W, Ashmore J, Wichmann
C, Moser T
2019
The Journal of Neuroscience, 2019 Sep 16, 0028-19; doi:
10.1523/JNEUROSCI.0028-19.2019
β-secretase BACE1 is required for normal cochlear
function
Dierich M, Hartmann S, Dietrich N, Moeser P, Brede F, Johnson
Chacko L, Tziridis K, Schilling A, Krauss P, Hessler S, Karch S, Schrott-Fischer
A, Blumer M, Birchmeier C, Oliver D, Moser T, Schulze H, Alzheimer C, Leitner M,
Huth T
2018
EMBO Journal, 05 Nov 2018, doi:
10.15252/embj.201899649
Ultrafast optogenetic stimulation of the auditory pathway by
targeting-optimized Chronos
Keppeler D, Martins Merino R, Lopez de la Morena D, Bali B,
Huet AT, Gehrt A, Wrobel C, Subramanian S, Dombrowski T, Wolf F, Rankovic V,
Neef A, Moser T
Frontiers in Physiology, 08 Oct 2018,
doi.org/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
Nature Communications 2018 May 1
doi:10.1038/s41467-018-04146-3
High
frequency neural spiking and auditory signaling by ultrafast red-shifted
optogenetics
Mager T, Lopez de la Morena D, Senn V, Schlotte J, D´Errico A,
Feldbauer K, Wrobel C, Jung S, Bodensiek K, Rankovic V, Browne L, Huet A,
Jüttner J, Wood P, Letzkus J, Moser T, Bamberg E
eLife 2018 Jan 12; 7:e29275 doi: 10.7554/eLife.29275
The synaptic ribbon
is critical for sound encoding at high rates and with temporal precision.
Jean P, Lopez de la Morena D, Michanski S, Jaime Tobón LM,
Chakrabarti R, Picher MM, Neef J, Jung SY, Gültas M, Maxeiner S, Neef A, Wichmann C,
Strenzke N, Grabner C, Moser T
Hum Genet. 2018 Jan 5.
https://doi.org/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.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H,
Khandelia H, Kopec W, Brünnich Lyngbye TJ, Hamel C, Delettre C, Bocqet B, Bille M,
Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput
K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O,
Rosewich H, Moser T, Bitner-Glindzicz M
EMBO J 2018 Jan 4; 37(1): 139–159, published online 2017 Nov 16.
e201695709, 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.
2017
EMBO reports 2017 Sep 11. e201643689; doi:
10.15252/embr.201643689
The
BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells
and for hearing
Vogl C, Butola T, Haag N, Hausrat TJ, Leitner MG, Moutschen M,
Lefèbvre PP, Speckmann C, Garrett L, Becker L, Fuchs H, Hrabe de Angelis M,
Nietzsche S, Kessels MM, Oliver D, Kneussel M, Kilimann MW, Strenzke N
Proc Natl Acad Sci U S A 2017 Feb 9. pii: 201617533
Ca2+-binding protein 2 inhibits Ca2+-channel
inactivation in mouse inner hair cells
Picher MM, Gehrt A, Meese S, Ivanovic A, Predoehl F, Jung S,
Schrauwen I, Dragonetti AG, Colombo R, Van Camp G, Strenzke N, Moser T
2016
EMBO J. 2016 Dec 1. 35(23):2519-2535
Hair cell
synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin
Ile515Thr mutants.
Strenzke N., Chakrabarti R., Al-Moyed H., Müller A., Hoch G.,
Pangrsic T., Yamanbaeva G., Lenz C., Pan KT., Auge E., Geiss-Friedlander R., Urlaub
H., Brose N., Wichmann C., Reisinger E.
F1000Res. 2016 Aug 26;5. pii: F1000 Faculty Rev-2081. doi:
10.12688/f1000research.8924.1
New insights into cochlear sound encoding.
Moser T., Vogl C.
EMBO J 2016 Jul 25. doi 10.15252/embj.201593565| The EMBO Journal
(2016) e201593565
Tryptophan-rich basic protein (WRB) mediates insertion of the
tail-anchored protein otoferlin and is required for hair cell exocytosis and
hearing.
Vogl C., Panou I., Yamanbaeva G., Wichmann C., Mangosing S.,
Vilardi F., Indzhykulian A., Pangršič T., Santarelli R., Rodriguez-Ballesteros M.,
Weber T., Jung S., Cardenas E., Wu X., Wojcik S.M., Kwan K.Y., del Castillo I.,
Schwappach B., Strenzke N., Corey D.P., Lin S.Y., Moser T.
Hum Mutat. 2016 Apr 11. doi: 10.1002/humu.22999.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing
Approach Combined With a Mutation Classification System.
Sommen M., Schrauwen I., Vandeweyer G., Boeckx N., Corneveaux J.J.,
van den Ende J., Boudewyns A., De Leenheer E., Janssens S., Claes K., Verstreken M.,
Strenzke N., Predöhl F., Wuyts W., Mortier G., Bitner-Glindzicz M., Moser T., Coucke
P., Huentelman M.J., Van Camp G.
EMBO J 2016 Apr 1. doi: 10.15252/embj.201694205. Comment.
Eyes without a ribbon.
Moser T.
Nat Rev Neurol. 2016 Feb 19. doi: 10.1038/nrneurol.2016.10. [Epub
ahead of print]. Review.
Auditory
neuropathy - neural and synaptic mechanisms.
Moser T., Starr A.
2015
The Primary Auditory Neurons of the Mammalian Cochlea,
pp 117-156, 07 October 2015, Editors: Dabdoub, A., Fritzsch, B., Popper, A.N., Fay,
R.R.
The
Ribbon Synapse Between Type I Spiral Ganglion Neurons and Inner Hair Cells
Rutherford M.A., Moser T.
2014
J Vis Exp. 2014 Oct 8;(92):e52069. doi: 10.3791/52069.
Optogenetic
stimulation of the auditory nerve.
Hernandez VH, Gehrt A, Jing Z, Hoch G, Jeschke M, Strenzke N, Moser
T.
Neuron. 2014 Sep 3, pii: S0896-6273(14)00678-3. doi:
10.1016/j.neuron.2014.08.003. [Epub ahead of print]
Uniquantal Release
through a Dynamic Fusion Pore Is a Candidate Mechanism of Hair Cell
Exocytosis.
Chapochnikov NM, Takago H, Huang CH, Pangršič T, Khimich D, Neef J,
Auge E, Göttfert F, Hell SW, Wichmann C, Wolf F, Moser T.
J Clin Invest. 2014 Mar 3;124(3):1114-29.
doi:10.1172/JCI69050.
Optogenetic
stimulation of the auditory pathway.
Hernandez VH, Gehrt A, Reuter K, Jing Z, Jeschke M, Mendoza Schulz
A, Hoch G, Bartels M, Vogt G, Garnham CW, Yawo H, Fukazawa Y, Augustine GJ, Bamberg
E, Kügler S, Salditt T, de Hoz L, Strenzke N, Moser T.
J Neurosci. 2014 Jan 15;34(3):705-16. doi:
10.1523/JNEUROSCI.3313-13.2014.
Modes and
regulation of endocytic membrane retrieval in mouse auditory hair cells.
Neef J, Jung S, Wong AB, Reuter K, Pangrsic T, Chakrabarti R,
Kügler S, Lenz C, Nouvian R, Boumil RM, Frankel WN, Wichmann C, Moser T.
2013
Nat Commun. 2013;4:1438. 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. 2012 Nov 2;91(5):919-27. doi:
10.1016/j.ajhg.2012.09.002.
A mutation in
PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing
loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y,
Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O,
Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler
CM, Teitell MA, Barakat A, Kubisch C.
Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi:
10.1016/j.ajhg.2012.08.018.
A mutation in
CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing
impairment.
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA,
Picher MM, Sommen M, Seco CZ, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E,
Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G.
Physiology (Bethesda). 2012 Apr;27(2):100-12. doi:
10.1152/physiol.00036.2011. Review.
Neural circuit
development in the mammalian cochlea.
Bulankina AV, Moser T.
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
