Skip to main content
Year
Paper
2022

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy.
EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35916241/
2022

Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function

Tomislav Kokotović, Ewelina M Lenartowicz, Michiel Langeslag, Cosmin I Ciotu, Christopher W Fell, Angelica Scaramuzza, Michael J M Fischer, Michaela Kress, Josef M Penninger, Vanja Nagy.
FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35029322/
2022

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability

Elham Alehabib, Tomislav Kokotović, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Samira Molaei Ramshe, Zahra Esmaeilizadeh, Hossein Darvish, Abolfazl Movafagh, Vanja Nagy.
Clin Neurol Neurosurg. 2022 Feb;213:107108. doi: 10.1016/j.clineuro.2021.107108. Epub 2021 Dec 30.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34995834/
Year
Paper
2022
Fell CW, Hagelkruys A, Cicvaric A, Horrer M, Liu L, Li JSS, Stadlmann J, Polyansky AA, Mereiter S, Tejada MA, Kokotović T, Achuta VS, Scaramuzza A, Twyman KA, Morrow MM, Juusola J, Yan H, Wang J, Burmeister M, Choudhury B, Andersen TL, Wirnsberger G, Holmskov U, Perrimon N, Žagrović B, Monje FJ, Moeller JB, Penninger JM, Nagy V. FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder. EMBO Mol Med. 2022 Aug 2:e15829. doi: 10.15252/emmm.202215829. Epub ahead of print. PMID: 35916241.
2021
Kokotović T, Langeslag M, Lenartowicz EM, Manion J, Fell CW, Alehabib E, Tafakhori A, Darvish H, Bellefroid EJ, Neely GG, Kress M, Penninger JM, Nagy V. PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. Front Mol Neurosci. 2021 Sep 27;14:720973. doi: 10.3389/fnmol.2021.720973. eCollection 2021.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34646120/
2021
Buphamalai P, Kokotovic T, Nagy V, Menche J. Network analysis reveals rare disease signatures across multiple levels of biological organization. Nat Commun. 2021 Nov 9;12(1):6306. doi: 10.1038/s41467-021-26674-1.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34753928/
2021
Freyberger F, Kokotović T, Krnjak G, Frković SH, Nagy V. Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients. Hum Genome Var. 2021 Sep 27;8(1):37. doi: 10.1038/s41439-021-00169-3.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34580287/
2022
Kokotović T, Lenartowicz EW, Langeslag M, Ciotu CI, Fell CW, Scaramuzza A, Fischer MJM, Kress M, Penninger JM, Nagy V. Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function. FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35029322/
2022
Alehabib E, Kokotovi T, Ranji-Burachaloo S, Tafakhori A, Ramshe SM, Esmaeilizadeh Z, Darvish H, Movafagh A, Nagy V. Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability. Clin Neurol Neurosurg. 2022 Feb;213:107108. doi: 10.1016/j.clineuro.2021.107108. Epub 2021 Dec 30.
Abstract: https://pubmed.ncbi.nlm.nih.gov/34995834/
2022
Hilgen G, Kartsaki E, Kartysh V, Cessac B, Sernagor E. A novel approach to the functional classification of retinal ganglion cells. Open Biol. 2022 Mar;12(3):210367. doi: 10.1098/rsob.210367. Epub 2022 Mar 9.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35259949/
2022
Kokotovi T, Lenartowicz EM, Langeslag M, Ciotu CI, Fell CW, Scaramuzza A, Fischer MJM, Kress M, Penninger JM, Nagy V. Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function. FEBS J. 2022 Jan 13. doi: 10.1111/febs.16347. Online ahead of print.
Abstract: https://pubmed.ncbi.nlm.nih.gov/35029322/
2021
Fell CW, Nagy V. Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability. Trends Mol Med. 2021 Mar;27(3):220-230. doi: 10.1016/j.molmed.2020.12.003. Epub 2021 Jan 2.
Abstract: https://pubmed.ncbi.nlm.nih.gov/33397633/
2020
Imhof S, Kokotović T, Nagy V. PRDM12: New Opportunity in Pain Research. Trends Mol Med. 2020 Oct;26(10):895-897. doi: 10.1016/j.molmed.2020.07.007. Epub 2020 Aug 20.
Abstract: https://pubmed.ncbi.nlm.nih.gov/32828702/
2019
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P,Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A,Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF,Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. HACE1 deficiency leads to structural and functional neurodevelopmental defects. Neurol Genet. 2019 Apr29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. PubMedPMID: 31321300;
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/6561753
2019
Lee NJ, Clarke IM, Zengin A, Enriquez RF, Nagy V, Penninger JM, Baldock PA,Herzog H. RANK deletion in neuropeptide Y neurones attenuates oestrogen deficiency-related bone loss. J Neuroendocrinol. 2019 Feb;31(2):e12687. doi:10.1111/jne.12687. Epub 2019 Feb 1.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30633834