Published Work
References and Links to Papers
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS.Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085 . Online ahead of print.PMID: 38489591
A chromosome-level genome assembly for the dugong (Dugong dugon)
Baker DN, Abueg L, Escalona M, Farquharson KA, Lanyon JM, Le Duc D, Schöneberg T, Absolon D, Sims Y, Fedrigo O, Jarvis ED, Belov K, Hogg CJ, Shapiro B.J Hered. 2024 Mar 13;115(2):212-220. doi: 10.1093/jhered/esae003 .PMID: 38245832
Genetic dissection of serum vaspin highlights its causal role in lipid metabolism
Breitfeld J, Horn K, Le Duc D, Velluva A, Marzi C, Grallert H, Friedrich N, Pietzner M, Völker U, Völzke H, Ahlqvist E, Aly DM, Tuomi T, Baber R, Kratzsch J, Thiery J, Isermann B, Loeffler M, Klöting N, Blüher M, Stumvoll M, Heiker JT, Tönjes A, Scholz M, Kovacs P.
Obesity (Silver Spring). 2023 Nov;31(11):2862-2874. doi: 10.1002/oby.23882 . Epub 2023 Sep 26.PMID: 37752728
GABRA1-related disorders: from genetic to functional pathways
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E.
Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774 PMID: 37606373
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative.
Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004 PMID: 37369202
Interactive webtool for analyzing drug sensitivity and resistance associated with genetic signatures of cancer cell lines
Boeschen M, Le Duc D, Stiller M, von Laffert M, Schöneberg T, Horn S. J Cancer Res Clin Oncol. 2022 Dec 6. doi: 10.1007/s00432-022-04503-2. Online ahead of print. PMID: 36472769
Phospholipid Scramblase 4 (PLSCR4) Regulates Adipocyte Differentiation via PIP3-Mediated AKT Activation
Barth LAG, Nebe M, Kalwa H, Velluva A, Kehr S, Kolbig F, Prabutzki P, Kiess W, Le Duc D, Garten A, Kirstein AS. Int J Mol Sci. 2022 Aug 29;23(17):9787. doi: 10.3390/ijms23179787. PMID: 36077184
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion
Körner MB, Velluva A, Bundalian L, Radtke M, Lin CC, Zacher P, Bartolomaeus T, Kirstein AS, Mrestani A, Scholz N, Platzer K, Teichmann AC, Hentschel J, Langenhan T, Lemke JR, Garten A, Abou Jamra R, Le Duc D. Sci Rep. 2022 Aug 5;12(1):13507. doi: 10.1038/s41598-022-17604-2. PMID: 35931711
Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells
Nebe M, Kehr S, Schmitz S, Breitfeld J, Lorenz J, Le Duc D, Stadler PF, Meiler J, Kiess W, Garten A, Kirstein AS. Biochem Biophys Res Commun. 2022 May 14;604:57-62. doi: 10.1016/j.bbrc.2022.03.014. Epub 2022 Mar 4. PMID: 35290761
Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cow
Le Duc D, Velluva A, Cassatt-Johnstone M, Olsen RA, Baleka S, Lin CC, Lemke JR, Southon JR, Burdin A, Wang MS, Grunewald S, Rosendahl W, Joger U, Rutschmann S, Hildebrandt TB, Fritsch G, Estes JA, Kelso J, Dalén L, Hofreiter M, Shapiro B, Schöneberg T. Sci Adv. 2022 Feb 4;8(5):eabl6496. doi: 10.1126/sciadv.abl6496. Epub 2022 Feb 4. PMID: 35119923
Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo D co-CRISPR selection with sgRNA target site masking
Götze KJ, Mrestani A, Beckmann P, Krohn K, Le Duc D, Velluva A, Böhme MA, Heckmann M, Abou Jamra R, Lemke JR, Bläker H, Scholz N, Ljaschenko D, Langenhan T. Biol Methods Protoc. 2022 Jan 12;7(1):bpac003. doi: 10.1093/biomethods/bpac003. eCollection 2022. PMID: 35087953 Free PMC article.
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies
Velluva A, Radtke M, Horn S, Popp B, Platzer K, Gjermeni E, Lin CC, Lemke JR, Garten A, Schöneberg T, Blüher M, Abou Jamra R, Le Duc D. BMC Genomics. 2021 Nov 7;22(1):802. doi: 10.1186/s12864-021-08125-9. PMID: 34743696
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. PMID: 34697416 Free PMC article.
Obesity–An Update on the Basic Pathophysiology and Review of Recent Therapeutic Advances
Gjermeni E, Kirstein AS, Kolbig F, Kirchhof M, Bundalian L, Katzmann JL, Laufs U, Blüher M, Garten A, Le Duc D.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK.
PTEN regulates adipose progenitor cell growth, differentiation, and replicative aging
Kirstein AS, Kehr S, Nebe M, Hanschkow M, Barth LAG, Lorenz J, Penke M, Breitfeld J, Le Duc D, Landgraf K, Körner A, Kovacs P, Stadler PF, Kiess W, Garten A.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR.
Genet Med. 2021 Apr 28. doi: 10.1038/s41436-021-01153-6. Online ahead of print. PMID: 33911214
Ecological Specialisation and Evolutionary Reticulation in Extant Hyaenidae.
Westbury MV, Le Duc D, Duchêne DA, Krishnan A, Prost S, Rutschmann S, Grau JH, Dalen L, Weyrich A, Norén K, Werdelin L, Dalerum F, Schöneberg T, Hofreiter M.
Mol Biol Evol. 2021 Feb 24:msab055. doi: 10.1093/molbev/msab055. Online ahead of print. PMID: 33624822
Dendritic Cells Regulate GPR34 through Mitogenic Signals and Undergo Apoptosis in Its Absence
Jäger E, Schulz A, Lede V, Lin CC, Schöneberg T, Le Duc D.
J Immunol. 2016 Mar 15;196(6):2504-13. doi: 10.4049/jimmunol.1501326. Epub 2016 Feb 5. PMID: 26851221
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Le Duc D, Hentschel J, Neuser S, Stiller M, Meier C, Jäger E, Abou Jamra R, Platzer K, Monecke A, Ziemer M, Markovic A, Bläker H, Lemke JR.
Eur J Hum Genet. 2021 Mar;29(3):489-494. doi: 10.1038/s41431-020-00781-x. Epub 2020 Dec 15. PMID: 33319852
Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity.
Le Duc D, Lin CC, Popkova Y, Yang Z, Akhil V, Çakir MV, Grunewald S, Simon JC, Dietz A, Dannenberger D, Garten A, Lemke JR, Schiller J, Blüher M, Nono Nankam PA, Rolle-Kampczyk U, von Bergen M, Kelso J, Schöneberg T.
Int J Obes (Lond). 2021 Mar;45(3):565-576. doi: 10.1038/s41366-020-00716-y. Epub 2020 Nov 24. PMID: 33235355
Germline AGO2 mutations impair RNA interference and human neurological development
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ.
Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. PMID: 33199684
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc D, Scholz H, Halbritter J.
J Med Genet. 2020 May 7:jmedgenet-2019-106633. doi: 10.1136/jmedgenet-2019-106633. Online ahead of print. PMID: 32381729
Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration
Hornemann F, Le Duc D, Roth C, Pfäffle R, Huhle D, Merkenschlager A.
Neuropediatrics. 2020 Feb;51(1):22-29. doi: 10.1055/s-0039-1696688. Epub 2019 Sep 10. PMID: 31505688
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.
Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. PMID: 31327001
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement
Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S.
Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12. PMID: 30986545
Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation
Spataru A, Le Duc D*, Zagrean L, Zagrean AM.
Neural Regen Res. 2019 Mar;14(3):485-490. doi: 10.4103/1673-5374.245474. PMID: 30539817
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation
Rockstroh D, Pfäffle H, Le Duc D, Rößler F, Schlensog-Schuster F, Heiker JT, Kratzsch J, Kiess W, Lemke JR, Abou Jamra R, Pfäffle R.
Eur J Endocrinol. 2019 Jan 1;180(1):K1-K13. doi: 10.1530/EJE-18-0601. PMID: 30400067
Genomic insights into natural selection in the common loon (Gavia immer): evidence for aquatic adaptation
Gayk ZG, Le Duc D, Horn J, Lindsay AR.
BMC Evol Biol. 2018 Apr 27;18(1):64. doi: 10.1186/s12862-018-1181-6. PMID: 29703132
P2Y Receptors in Immune Response and Inflammation
Le Duc D, Schulz A, Lede V, Schulze A, Thor D, Brüser A, Schöneberg T.
Adv Immunol. 2017;136:85-121. doi: 10.1016/bs.ai.2017.05.006. Epub 2017 Jun 10. PMID: 28950952
Behavioral and molecular effects of prenatal continuous light exposure in the adult rat
Voiculescu SE, Le Duc D*, Roșca AE, Zeca V, Chiţimuș DM, Arsene AL, Drăgoi CM, Nicolae AC, Zăgrean L, Schöneberg T, Zăgrean AM.
Brain Res. 2016 Nov 1;1650:51-59. doi: 10.1016/j.brainres.2016.08.031. Epub 2016 Aug 24. PMID: 27566064
Adaptation to nocturnality - learning from avian genomes
Le Duc D, Schöneberg T.
Bioessays. 2016 Jul;38(7):694-703. doi: 10.1002/bies.201600006. Epub 2016 May 12. PMID: 27172298
Fetal alcohol spectrum disorder: molecular insights into neural damage reduction
Le Duc D.
Neural Regen Res. 2015 Nov;10(11):1764-6. doi: 10.4103/1673-5374.165290. PMID: 26807109
Kiwi genome provides insights into evolution of a nocturnal lifestyle
Le Duc D, Renaud G, Krishnan A, Almén MS, Huynen L, Prohaska SJ, Ongyerth M, Bitarello BD, Schiöth HB, Hofreiter M, Stadler PF, Prüfer K, Lambert D, Kelso J, Schöneberg T.
Genome Biol. 2015 Jul 23;16(1):147. doi: 10.1186/s13059-015-0711-4. PMID: 26201466
Developmental exposure to ethanol increases the neuronal vulnerability to oxygen-glucose deprivation in cerebellar granule cell cultures
Le Duc D, Spataru A, Ceanga M, Zagrean L, Schöneberg T, Toescu EC, Zagrean AM. Brain Res. 2015 Jul 21;1614:1-13. doi: 10.1016/j.brainres.2015.04.009. Epub 2015 Apr 13. PMID: 25881894
Altered microglial phagocytosis in GPR34-deficient mice
Preissler J, Grosche A, Lede V, Le Duc D, Krügel K, Matyash V, Szulzewsky F, Kallendrusch S, Immig K, Kettenmann H, Bechmann I, Schöneberg T, Schulz A. Glia. 2015 Feb;63(2):206-15. doi: 10.1002/glia.22744. Epub 2014 Aug 20. PMID: 25142016
The G protein-coupled receptor P2Y14 influences insulin release and smooth muscle function in mice
Meister J, Le Duc D, Ricken A, Burkhardt R, Thiery J, Pfannkuche H, Polte T, Grosse J, Schöneberg T, Schulz A.
J Biol Chem. 2014 Aug 22;289(34):23353-66. doi: 10.1074/jbc.M114.580803. Epub 2014 Jul 3. PMID: 24993824
Luciferase activity under direct ligand-dependent control of a muscarinic acetylcholine receptor
Thor D, Le Duc D, Strotmann R, Schöneberg T.
BMC Biotechnol. 2009 May 18;9:46. doi: 10.1186/1472-6750-9-46. PMID: 19450256
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*first author contribution