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Prof. Dr. John Neidhardt

+49 (0)441 798-3800

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Carl von Ossietzky Universität Oldenburg
Fakultät VI Medizin und Gesundheitswissenschaften
Abteilung Humangenetik
Carl-von-Ossietzky Str. 9-11
26129 Oldenburg

Publikationen

Ausgewählte Publikationen

2020:

Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon van Slegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska "Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes"; Molecular Genetics & Genomic Medicine, Jun 2020

Anne Gläser, Franziska Hammerl, Markus H. Gräler [OrcID], Sina M. Coldewey , Christin Völkner, Moritz J. Frech [OrcID] , Fan Yang, Jiankai Luo, Eric Tönnies, Oliver von Bohlen und Halbach, Nicola Brandt, Diana Heimes, Anna-Maria Neßlauer, Georg Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Arndt Rolfs, Andreas Wree, Martin Witt [OrcID], Anja Ursula Bräuer [OrcID] "Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism" Int. J. Mol. Sci. Jun 2020, 21(12),

2019:

Vagts J, Weiten A, Scheve S, Kalvelage K, Swirski S, Wöhlbrand L, Neidhardt J, Winklhofer M, Rabus R. (2019) "Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants." J Bacteriol. 2019 Dec 16. pii: JB.00595-19.

Breuel S, Vorm M, Bräuer AU, Owczarek-Lipska M, Neidhardt J. "Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation."  Mol Ther Nucleic Acids. (2019) Aug 16;18

Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. "Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome." Am J Med Genet A. 2019 Sep 11

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. "Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease."  Mol Biol Rep. 2019 Aug;46(4):4507-4516

Neßlauer AM, Gläser A, Gräler M, Engelmann R, Müller-Hilke B, Frank M, Burstein C, Rolfs A, Neidhardt J, Wree A, Witt M, Bräuer AU. "A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick-disease type C1."  Lipids Health Dis. 2019 Jun 28, 18(1):146

Schlegel J, Hoffmann J, Röll D1, Müller B, Günther S, Zhang W, Janise A, Vössing C, Fühler B, Neidhardt J, Khanna H, Lorenz B, Stieger K. (2019) "Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features." Transl Res. 2019 Jan; 203:57-72

2018:

Duijkers L, van den Born LI, Neidhardt J, Bax NM, Pierrache LHM, Klevering BJ, Collin RWJ, Garanto A, „Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.”, Int J Mol Sci. 2018 Mar 7;19(3)

Ströh S, Puller C, Swirski S, Hölzel MB, van der Linde LIS, Segelken J, Schultz K, Block C, Monyer H, Willecke K, Weiler R, Greschner M, Janssen-Bienhold U, Dedek K, "Eliminating Glutamatergic Input onto Horizontal Cells Changes the Dynamic Range and Receptive Field Organization of Mouse Retinal Ganglion Cells.", J Neurosci. 2018 Jan 19. pii: 0141-17

Swirski S, Röger C, Pienkowska-Schelling A,  Ihlenburg C, Fischer G, May O, Vorm M, Owczarek-Lipska M, Neidhardt J, "A Novel C-Terminal Mutation in Gsdma3 (C+/H-) leads to Alopecia and Corneal Inflammatory Response in Mice.", Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):561-571

2017:

Rakotomamonjy J, Brunner M, Jüschke C, Zang K, Huang EJ, Reichardt LF, Chenn A, "Afadin controls cell polarization and mitotic spindle orientation in developing cortical radial glia.", Neural Dev. 2017 May 8;12(1):7

2016:

Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J, "The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.", 2016, Scientific Reports, Nov 4;6:36208

Da Costa R, Röger C, Segelken J, Barben M, Grimm C, Neidhardt J, "A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice.", 2016, Investigative Ophthalmology & Visual Science, Vol.57, 5326-5334

Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W, "Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.", 2016, PLoS One, 11(7): e0158692

Tiwari A, Bahr A, Bähr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W, "Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.", 2016, Scientific Reports, 6:28755

Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H, "Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.", 2016, PLoS Genet., May 12(5): e1006037

Schaar K, Röger C, Pozzuto T, Kurreck J, Pinkert S, Fechner H, "Biological antivirals for treatment of adenovirus infections.", 2016, Antiviral Therapy, Apr 21:559-566

Wang Z, Monteiro CD, Jagodnik KM, Fernandez NF, Gundersen GW, Rouillard AD, Jenkins SL, Feldmann AS, Hu KS, McDermott MG, Duan Q, Clark NR, Jones MR, Kou Y, Goff T, Woodland H, Amaral FM, Szeto GL, Fuchs O, Schüssler-Fiorenza Rose SM, Sharma S, Schwartz U, Bausela XB, Szymkiewicz M, Maroulis V, Salykin A, Barra CM, Kruth CD, Bongio NJ, Mathur V, Todoric RD, Rubin UE, Malatras A, Fulp CT, Galindo JA, Motiejunaite R, Jüschke C, Dishuck PC, Lahl K, Jafari M, Aibar S, Zaravinos A, Steenhuizen LH, Allison LR, Gamallo P, de Andres Segura F, Dae Devlin T, Pérez-García V, Ma'ayan A, "Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd.", 2016, Nature Communications, 7: 12846

2015:

Hirzel C, Wandeler G, Owczarek M, Gorgievski-Hrisoho M, Dufour JF, Semmo N, Zürcher S, "Molecular epidemiology of hepatitis B virus infection in Switzerland: a retrospective cohort study.", 2015, BMC Infectious Diseases, Oct, 15: 483

Pozzuto T, Röger C, Kurreck J, Fechner H, "Enhanced suppression of adenovirus replication by triple combination of anti-adenoviral siRNAs, soluble adenovirus receptor trap sCAR-Fc and cidofovir.", 2015, Antiviral Research, Aug; 120: 72-78

Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J., “Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.”, 2015, Gene Therapy, May; 22(5):413-20

Röger C, Pozzuto T, Klopfleisch R, Kurreck J, Pinkert S, Fechner H, “Expression of an Engineered Soluble Coxsackievirus and Adenovirus Receptor by a Dimeric AAV9 Vector Inhibits Adenovirus Infection in Mice”, 2015, Gene Therapy, Jun;22(6):458-66

2014:  

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W., “Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome.“, 2014, PLoS One., Nov;13;9(11), e112747

Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S., “GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy”, 2014, Ann Neurol., Jan;75(1):147-54

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J, “Panel-based Next Generation Sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.“, 2014, Eur J Hum Genet., Jan;22(1):99-104

2013:

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B. “The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.” Hum Mol Genet. 2013 Aug 15;22(16):3218-26.

Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J, “A Gene Therapeutic Approach to Correct Splice Defects with Modified U1 and U6 snRNPs.“, 2013, Hum Gene Ther., Jan;24(1):97-104.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W, “Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.”, 2013, Eur J Hum Genet., Mar;21(3):352-6

2011:

Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J, “Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.”, 2011, Mol Ther., May;19(5):936-41

Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J, “U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation”, 2011, Hum Mutat., Jul;32(7):815-24

University of Zurich press release, UZH News, Title: “Neuartige Therapie bei schweren Erbkrankheiten”, published on Aug 23rd, 2011, link: http://www.uzh.ch/news/articles/2011/ neuartige-therapie-bei-schweren-erbkrankheiten.html

2010:

Review article
Berger W, Kloeckener-Gruissem B, Neidhardt J, “The molecular basis of human retinal and vitreoretinal diseases”, Review article, 2010, Prog Retin Eye Res., Sep;29(5):335-75

Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J, “ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype”, 2010, Invest Ophthalmol Vis Sci., Aug;51(8):4253-65

Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner F, Waseem NH, Schorderet D, Munier FL, Bhattacharya SS, Berger W, Kloeckener-Gruissem B. “Alterations of the 5'untranslated leader region of SLC16A12 lead to age-related cataract.“, 2010, Invest Ophthalmol Vis Sci., Jul;51(7):3354-61

the first three authors contributed equally:
Meier ID, Bernreuther C, Tilling T, Neidhardt J, Wee Wong Y, Schulze C, Streichert T, Schachner M. “Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression.”, 2010, FASEB J., Jun;24(6):1714-24

Schmid F, Glaus E, Cremers FPM, Berger W, Neidhardt J, “Mutation- and tissue-specific alterations of RPGR transcripts”, 2010, Invest Ophthalmol Vis Sci., Mar;51(3):1628-35

Brunner S, Skosyrsky S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, BergerW, “Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds”, 2010, Invest Ophthalmol Vis Sci., Feb;51(2):1106-15

2009:

Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J, “Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.”, 2009, Hum Mutat., Feb;30(2), 255–263

2008:

Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W, “Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.” 2008, Biol Reprod., Oct;79(4):608-17

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear S, Lemke J, Neidhardt J, Berger W, “Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.”, 2008, Invest Ophthalmol Vis Sci., Sep;49(9):4105-14

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W, “Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.”, 2008, Mol Vis. Jun 6;14:1081-93

the first two authors contributed equally:
Luhmann UFO, Neidhardt J, Kloeckener-Gruissem B, Schäfer NF, Glaus E, Feil S, Berger W, “Vascular changes in the cerebellum of Norrin/Ndph knockout mice correlate with high expression of Norrin and Frizzled-4”, 2008, Eur J Neuosci., May;27(10):2619-28

Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W, „Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.”, 2008, Am J Hum Genet. Mar;82(3):772-9

2007:

Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer JC, Berger W, “Identification and characterization of a novel RPGR isoform in human retina.”, 2007, Hum Mutat., Aug;28(8):797-807

Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor P, Berger W, "Night blindness-associated mutations in the ligand-binding, cysteine-rich and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking", 2007, Hum Mutat., Aug;28(8):771-80

2006:

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W, “Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.”, 2006, Am J Hum Genet., Nov;79(5):973-7

Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K , Berger W, “Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.”, 2006, Invest Ophthalmol Vis Sci., Aug;47(8):3523-30

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W, “Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.”, 2006, Invest Ophthalmol Vis Sci., Apr;47(4):1630-5

2005:

review article
Neidhardt J, Wycisk K, Kloeckener-Gruissem B. „Viral and nonviral gene therapy for treatment of retinal diseases”, Review article, 2005, Ophthalmologe, 102(8):764-71

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