Publications

Klug K, Breyer M, Klopocki E, Üçeyler N. Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease. Stem Cell Res. 2023 Jan 9;67:103025. doi: 10.1016/j.scr.2023.103025. Epub ahead of print. PMID: 36640471.

Müntze J, Lau K, Cybulla M, Brand E, Cairns T, Lorenz L, Üçeyler N, Sommer C, Wanner C, Nordbeck P. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. Mol Genet Metab 2022 Dec 22;138(2):106981. doi: 10.1016/j.ymgme.2022.106981. Online ahead of print.

Breyer M, Klein T, Klug K, Klopocki E, Üçeyler N. Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease. Stem Cell Res. 2022 May;61:102747. doi: 10.1016/j.scr.2022.102747.

Bouhassira D, Perrot S, Attal N, Ramirez-Gil JF, Delval C, Schaller M, Bessière B, Houéto P, Sommer C. Combination of inhaled nitrous oxide and oral opioids induces long-lasting analgesic effects in patients with neuropathic pain: ProtoTOP study post hoc exploratory analyses. Pain 2022 Sep 1;163(9):e1021-e1029. doi: 10.1097/j.pain.0000000000002570.

Lau K, Üçeyler N, Cairns T, Lorenz L, Sommer C, Schindehütte M, Amann K, Wanner C, Nordbeck P. Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly). Mol Genet Genomic Med. 2022 May;10(5):e1912. doi: 10.1002/mgg3.1912. Epub 2022 Feb 25.

Spitzel M, Wagner E, Breyer M, Henniger D, Bayin M, Hofmann L, Mauceri D, Sommer C, Üçeyler N. Dysregulation of immune response mediators and pain-related ion channels is associated with pain-like behavior in the GLA KO mouse model of Fabry disease. Cells. 2022 May 24;11(11):1730.  doi:10.3390/cells11111730.

Appeltshauser L, Junghof H, Messinger J, Linke J, Haarmann A, Ayzenberg I, Baka P, Dorst J, Fisse AL, Grüter T, Hauschildt V, Jörk A, Leypoldt F, Mäurer M, Meinl E, Michels S, Motte J, Pitarokoili K, Stettner M, Villmann C, Weihrauch M, Welte GS, Zerr I, Heinze KG, Sommer C, Doppler K. Anti-pan-neurofascin antibodies induce subclass-related complement activation and nodo-paranodal damage. Brain 2022 Nov 8;awac418. doi: 10.1093/brain/awac418.

Verma V, Drury GL, Parisien M, Özdağ Acarli AN, Al-Aubodah TA, Nijnik A, Wen X, Tugarinov N, Verner M, Klares R, 3rd, Linton A, Krock E, Morado Urbina CE, Winsvold B, Fritsche LG, Fors EA, Piccirillo C, Khoutorsky A, Svensson CI, Fitzcharles MA, Ingelmo PM, Bernard NF, Dupuy FP, Üçeyler N, Sommer C, King IL, Meloto CB, Diatchenko L. Unbiased immune profiling reveals a natural killer cell-peripheral nerve axis in fibromyalgia. Pain 2022 Jul 1;163(7):e821-e836. 
doi: 10.1097/j.pain.0000000000002498.

Raicher I, Zandonai AP, Anghinah IW, Frassetto M, Stump P, Trindade MAB, Harnik S, Oliveira RA, Macarenco RSS, Doppler K, Üçeyler N, Mello ES, Sommer C, Teixeira MJ, Galhardoni R, de Andrade DC. Mirror peripheral neuropathy and unilateral chronic neuropathic pain: insights from asymmetric neurological patterns in leprosyperipheral neuropathy and unilateral chronic neuropathic pain: insights from asymmetric neurological patterns in leprosy. Pain 2022 Aug 15. doi: 10.1097/j.pain.0000000000002757.

Wagenhäuser L, Rickert V, Sommer C, Wanner C, Nordbeck P, Rost S, Üçeyler N. X-chromosomal inactivation patterns in women with Fabry disease. Mol Genet Genomic Med. 2022 Sep;10(9):e2029. doi: 10.1002/mgg3.2029. Epub 2022 Aug 16.

Weiner S, Strinitz M, Herfurth J, Hessenauer F, Nauroth-Kreß C, Kampf T, Homola GA, Üçeyler N, Sommer C, Pham M, Schindehütte M. Dorsal root ganglion volumetry by MR gangliography. AJNR Am J Neuroradiol. 2022 May;43(5):769-775. doi: 10.3174/ajnr.A7487. Epub 2022 Apr 21.

Karl F, Bischler T, Egenolf N, Evdokimov D, Heckel T, Üçeyler N. Fibromyalgia versus small fiber neuropathy: diverse keratinocyte transcriptome signature. Pain. 2021 Mar 1. doi: 10.1097/j.pain.0000000000002249. (project-related)

Kreß L, Hofmann L, Klein T, Klug K, Saffer N, Spitzel M, Bär F, Sommer C, Karl F, Üçeyler N. Differential impact of keratinocytes and fibroblasts on nociceptor degeneration and sensitization in small fiber neuropathy. Pain. 2021 Apr 1;162(4):1262-1272. doi: 10.1097/j.pain.0000000000002122. (project-related)

Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Alexander Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother. 2021 Mar 16:pvab025. doi: 10.1093/ehjcvp/pvab025. (project-related)

Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, Stumpfe K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kühl S, Brand E. Treatment of Fabry’s Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS). Clin Pharmacol Ther. 2020 Aug;108(2):326-337. doi: 10.1002/cpt.1832. (project-related)

Rickert V, Wagenhäuser L, Nordbeck P, Wanner C, Sommer C, Rost S, Üçeyler N. Stratification of Fabry mutations in clinical practice: a closer look at alpha-galactosidase A-3D structure. J Intern Med. 2020 Nov;288(5):593-604. doi: 10.1111/joim.13125. (project-relevant)

Rickert V, Kramer D, Schubert AL, Sommer C, Wischmeyer E, Üçeyler N. Globotriaosylceramide-induced reduction of K(Ca)1.1 channel activity and activation of the Notch1 signaling pathway in skin fibroblasts of male Fabry patients with pain. Exp Neurol. 2020 Feb;324:113134. doi: 10.1016/j.expneurol.2019.113134. (project-relevant)

Jovanovic A, Klassen P, Heuschmann P, Sommer C, Roberts M, Üçeyler N. English version of the self-administered Fabry Pain Questionnaire for adult patients. Orphanet J Rare Dis. 2020 Oct 20;15(1):296. doi: 10.1186/s13023-020-01580-9. (project-related)

Siedler G, Káhn AK, Weidemann F, Wanner C, Sommer C, Üçeyler N. Dyshidrosis is associated with reduced amplitudes in electrically evoked pain-related potentials in women with Fabry disease. Clin Neurophysiol. 2019;130(4):528-536. doi: 10.1016/j.clinph.2019.01.008.

Üçeyler N, Urlaub D, Mayer C, Uehlein S, Held M, Sommer C. Tumor necrosis factor-α links heat and inflammation with Fabry pain. Mol Genet Metab. 2019. pii: S1096-7192(19)30169-6.

Klein T, Günther K, Kwong CK, Edenhofer F, Üçeyler N. Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. Stem Cell Res. 2018;31:222-226.

Hofmann L, Hose D, Grießhammer A, Blum R, Döring F, Dib-Hajj S, Waxman S, Sommer C, Wischmeyer E,Üçeyler N. Characterisation of a mouse model of Fabry disease. Elife. 2018;ePub 10/17. 

Godel T, Bäumer P, Pham M, Köhn A, Muschol N, Kronlage M, Kollmer J, Heiland S, Bendszus M, Mautner VF. Human dorsal-root-ganglion in-vivo morphometry and perfusion in Fabry painful neuropathy. Neurology. 2017;89:1274-1282.

Godel T, Pham M, Heiland S, Bendszus M, Bäumer P. Human dorsal-root-ganglion perfusion measured in-vivo by MRI. Neuroimage. 2016;141:81-87.

Üçeyler N, Biko L, Hose D, Hofmann L, Sommer C. Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development. Mol Pain. 2016;12.

Pham M, Oikonomou D, Hornung B, Weiler M, Heiland S, Bäumer P, Kollmer J, Nawroth PP, Bendszus M.  MR neurography detects diabetic neuropathy early and with proximal predominance. Ann Neurol. 2015;78:939-948.

Üçeyler N, Magg B, Thomas P, Wiedmann S, Heuschmann P, Sommer C. A comprehensive Fabry-related pain questionnaire for adult patients. Pain. 2014;155:2301-2305. 

Üçeyler N, Ganendiran S, Kramer D, Sommer C. Characterization of pain in Fabry disease. Clin J Pain. 2014;30:915-920.

Üçeyler N, He L, Schönfeld D, Kahn AK, Reiners K, Hilz MJ, Breunig F, Sommer C. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J Peripher Nerv Syst. 2011;16:304-314.

Maier C, Baron R, Tölle TR, Binder A, Birbaumer N, Birklein F, Gierthmühlen J, Flor H, Geber C, Huge V, Krumova EK, Landwehrmeyer GB, Magerl W, Maihöfner C, Richter H, Rolke R, Scherens A, Schwarz A, Sommer C, Tronnier V, Üçeyler N, Valet M, Wasner G, Treede RD. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): somatosensory abnormalities in 1236 patients with different neuropathic pain syndromes. Pain. 2010;150:439-450. 

Müntze J, Lau K, Cybulla M, Brand E, Cairns T, Lorenz L, Üçeyler N, Sommer C, Wanner C, Nordbeck P. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. Mol Genet Metab. 2023 Feb;138(2):106981. doi: 10.1016/j.ymgme.2022.106981. Epub 2022 Dec 22. PMID: 36709535.

Klug K, Spitzel M, Hans C, Klein A, Schottmann NM, Erbacher C, Üçeyler N. Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach. Int J Mol Sci. 2023 Oct 21;24(20):15422. doi: 10.3390/ijms242015422. PMID: 37895103

Breyer M, Grüner J, Klein A, Finke L, Klug K, Sauer M, Üçeyler N. In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease. Mol Genet Metab Rep, 2024, https://doi.org/10.1016/j.ymgmr.2023.101029

Klug K, Breyer M, Klopocki E, Üçeyler N. Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease. Stem Cell Res. 2023 Mar;67:103025. doi: 10.1016/j.scr.2023.103025. Epub 2023 Jan 9. PMID: 36640471

Erbacher C, Britz S, Dinkel P, Klein T, Sauer M, Stigloher C, Üçeyler N. Interaction of human keratinocytes and nerve fiber terminals at the neuro-cutaneous unit. Elife. 2024 Jan 16;13:e77761. doi: 10.7554/eLife.77761. PMID: 38225894

Other publications:

Üçeyler group:

Erbacher C, Vaknine S, Moshitzky G, Lobentanzer S, Eisenberg L, Evdokimov D, Sommer C, Greenberg DS, Soreq H, Üçeyler N. Distinct CholinomiR Blood Cell Signature as a Potential Modulator of the Cholinergic System in Women with Fibromyalgia Syndrome. Cells. 2022 Apr 9;11(8):1276. doi: 10.3390/cells11081276. PMID: 35455956; PMCID: PMC9031252.

Karl-Schöller F, Kunz M, Kreß L, Held M, Egenolf N, Wiesner A, Dandekar T, Sommer C, Üçeyler N. A translational study: Involvement of miR-21-5p in development and maintenance of neuropathic pain via immune-related targets CCL5 and YWHAE. Exp Neurol. 2022 Jan;347:113915. doi: 10.1016/j.expneurol.2021.113915. Epub 2021 Nov 7. PMID: 34758342.

Egenolf N, Zu Altenschildesche CM, Kreß L, Eggermann K, Namer B, Gross F, Klitsch A, Malzacher T, Kampik D, Malik RA, Kurth I, Sommer C, Üçeyler N. Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study. Ther Adv Neurol Disord. 2021 Mar 23;14:17562864211004318. doi: 10.1177/17562864211004318. Erratum in: Ther Adv Neurol Disord. 2021 Jul 31;14:17562864211036650. PMID: 34335876; PMCID: PMC8283814.

Karl F, Bischler T, Egenolf N, Evdokimov D, Heckel T, Üçeyler N. Fibromyalgia vs small fiber neuropathy: diverse keratinocyte transcriptome signature. Pain. 2021 Oct 1;162(10):2569-2577. doi: 10.1097/j.pain.0000000000002249. PMID: 33675632.

Kreß L, Hofmann L, Klein T, Klug K, Saffer N, Spitzel M, Bär F, Sommer C, Karl F, Üçeyler N. Differential impact of keratinocytes and fibroblasts on nociceptor degeneration and sensitization in small fiber neuropathy. Pain. 2021 Apr 1;162(4):1262-1272. doi: 10.1097/j.pain.0000000000002122. PMID: 33196576.

Karl F, Wußmann M, Kreß L, Malzacher T, Fey P, Groeber-Becker F, Üçeyler N. Patient-derived in vitro skin models for investigation of small fiber pathology. Ann Clin Transl Neurol. 2019 Sep;6(9):1797-1806. doi: 10.1002/acn3.50871. Epub 2019 Aug 28. PMID: 31464071; PMCID: PMC6764636.

Freeman R, Gewandter JS, Faber CG, Gibbons C, Haroutounian S, Lauria G, Levine T, Malik RA, Singleton JR, Smith AG, Bell J, Dworkin RH, Feldman E, Herrmann DN, Hoke A, Kolb N, Mansikka H, Oaklander AL, Peltier A, Polydefkis M, Ritt E, Russell JW, Sainati S, Steiner D, Treister R, Üçeyler N. Idiopathic distal sensory polyneuropathy: ACTTION diagnostic criteria. Neurology. 2020 Dec 1;95(22):1005-1014. doi: 10.1212/WNL.0000000000010988

Evdokimov D, Frank J, Klitsch A, Unterecker S, Warrings B, Serra J, Papagianni A, Saffer N, Meyer Zu Altenschildesche C, Kampik D, Malik RA, Sommer C, Üçeyler N. Reduction of skin innervation is associated with a severe fibromyalgia phenotype. Ann Neurol. 2019 Oct;86(4):504-516. doi: 10.1002/ana.25565.

Characterization of small fiber pathology in a mouse model of Fabry disease. Hofmann L, Hose D, Grießhammer A, Blum R, Döring F, Dib-Hajj S, Waxman S, Sommer C, Wischmeyer E, Üçeyler N. Elife. 2018 Oct 17;7. pii: e39300. doi: 10.7554/eLife.39300.

Sensory profiles and immune related expression patterns of patients with and without neuropathic pain after peripheral nerve lesion. Held M, Karl F, Vlckova E, Rajdova A, Escolano-Lozano F, Stetter C, Bharti R, Förstner KU, Leinders M, Dušek L, Birklein F, Bednarik J, Sommer C, Üçeyler N. Pain. 2019 May 22. doi: 10.1097/j.pain.0000000000001623. 

Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease. Üçeyler N, Böttger J, Henkel L, Langjahr M, Mayer C, Nordbeck P, Wanner C, Sommer C. J Intern Med. 2018 Oct;284(4):427-438. doi: 10.1111/joim.12801. 

Ullrich M, Weber M, Post AM, Popp S, Grein J, Zechner M, Guerrero González H, Kreis A, Schmitt AG, Üçeyler N, Lesch KP, Schuh K. OCD-like behavior is caused by dysfunction of thalamo-amygdala circuits and upregulated TrkB/ERK-MAPK signaling as a result of SPRED2 deficiency. Mol Psychiatry. 2018 Feb;23(2):444-458. doi: 10.1038/mp.2016.232.

Sommer group:

Doppler K, Appeltshauser L, Villmann C, Martin C, Peles E, Kramer HH, Haarmann A, Buttmann M, Sommer C. Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy. Brain 2016;139:2617-30.

Attal N, de Andrade DC, Adam F, Ranoux D, Teixeira MJ, Galhardoni R, Raicher I, Üçeyler N, Sommer C, Bouhassira D. Safety and efficacy of repeated injections of botulinum toxin A in peripheral neuropathic pain (BOTNEP): a randomised, double-blind, placebo-controlled trial. Lancet Neurol 2016;15:555-65.

Sommer C. Exploring pain pathophysiology in patients. Science 2016;354:588-92.

Sommer C. Peripheral neuropathies: Long-term opioid therapy in neuropathy: benefit or harm? Nat Rev Neurol 2017;13:516-7.

Pham group:

Hoffmann A, Dege T, Kunze R, Ernst AS, Lorenz H, Böhler LI, Korff T, Marti HH, Heiland S, Bendszus M, Helluy X, Pham M. Early Blood-Brain Barrier Disruption in Ischemic Stroke Initiates Multifocally Around Capillaries/Venules.Stroke.2018 Jun;49(6):1479-1487. 

Bäumer P, Kele H, Xia A, Weiler M, Schwarz D, Bendszus M, Pham M. Posterior interosseous neuropathy: Supinator syndrome vs fascicular radial neuropathy.Neurology. 2016 Nov 1;87(18):1884-1891

Godel T, Pham M, Heiland S, Bendszus M, Bäumer P. Human dorsal-root-ganglion perfusion measured in-vivo by MRI.Neuroimage. 2016 Nov 1;141:81-87

Hoffmann A, Pfeil J, Alfonso J, Kurz FT, Sahm F, Heiland S, Monyer H, Bendszus M, Mueller AK, Helluy X, Pham M. Experimental Cerebral Malaria Spreads along the Rostral Migratory Stream.PLoS Pathog. 2016 Mar 10;12(3):e1005470

Pham M, Oikonomou D, Hornung B, Weiler M, Heiland S, Bäumer P, Kollmer J, Nawroth PP, Bendszus M. Magnetic resonance neurography detects diabetic neuropathy early and with Proximal Predominance.Ann Neurol. 2015 Dec;78(6):939-48

Kollmer J, Hund E, Hornung B, Hegenbart U, Schönland SO, Kimmich C, Kristen AV, Purrucker J, Röcken C, Heiland S, Bendszus M, Pham M. In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography.

Brain. 2015 Mar;138(Pt 3):549-62. doi: 10.1093/brain/awu344. Epub 2014 Dec 18.