Pharmakogenomik
Department für Experimentelle und Klinische Pharmakologie und Pharmakogenomik

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71

Adresse: Lothar-Meyer-Bau
Wilhelmstr. 56
72074 Tübingen

frontend.sr-only_#{element.icon}: 07071 29-73082

frontend.sr-only_#{element.icon}: 07071 29-35286

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Research AG Philipp

The research focus of our group is on the following topics:

Contact

Head of research group:

frontend.sr-only_#{element.icon}: Prof. Dr. Melanie Philipp

More about the person
  • Kinase Activity Is Not Required for G Protein-Coupled Receptor Kinase 4 Restraining mTOR Signaling during Cilia and Kidney Development. 
    Gerhards J, Maerz LD, Matthees ESF, Donow C, Moepps B, Premont RT, Burkhalter MD, Hoffmann C, Philipp M. J Am Soc Nephrol. 2023 Apr 1;34(4):590-606. doi: 10.1681/ASN.0000000000000082. Epub 2023 Jan 26. PMID: 36810260
  • Aging Associates with Cilium Elongation and Dysfunction in Kidney and Pancreas. 
    Adametz F, Müller A, Stilgenbauer S, Burkhalter MD, Philipp M. Adv Biol (Weinh). 2023 Aug 3:e2300194. doi: 10.1002/adbi.202300194. Online ahead of print. PMID: 37537358
  • Dutto I*, Gerhards J*, Herrera A, Souckova O, Škopová V, Smak J, Junza A, Yanes O, Boeckx C Prof, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH. Pathway specific effects of ADSL deficiency on neurodevelopment. Elife. 2022. doi: 10.7554/eLife.70518.      * equal contribution
  • Duong Phu M, Bross S, Burkhalter MD, Philipp M (2021) Limitations and opportunities in the pharmacotherapy of ciliopathies. Pharmacology & Therapeutics. 225:10784
  • Scheffold A, Baig AH, Chen Z, von Löhneysen SE, Becker F, Morita Y, Avila AI, Groth M, Lechel A, Schmid F, Kraus JM, Kestler HA, Stilgenbauer S, Philipp M, Burkhalter MD (2020) Elevated Hedgehog activity contributes to attenuated DNA damage responses in aged hematopoietic cells.
    Leukemia. 34(4):1125-1134.
  • Buchert R*, Burkhalter MD*, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M#, Haack TB# (2025) Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy. Am J Hum Genet. 112(2):374-393. doi: 10.1016/j.ajhg.2024.12.019. Epub 2025 Jan 16. PMID: 39824192. *co-first, #co-last
  • Burkhalter MD, Stiff T, Maerz LD, Casar Tena T, Wiese H, Gerhards J, Sailer SA, Vu LAT, Duong Phu M, Donow C, Alupei M, Iben S, Groth M, Wiese S, Church JA, Jeggo PA, Philipp M (2024) Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage. Cell Death Dis. 15(9):660. doi: 10.1038/s41419-024-07042-5. PMID: 39251572
  • Burkhalter MD, Philipp M (2024) Fin clipping does not increase opercular beat rate in tricaine-treated zebrafish. Lab Anim. 58(6):616-620. doi: 10.1177/00236772241252551. Epub 2024 Aug 19. PMID: 39157987 

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Have we raised your interest? Please, inquire! We are always interested in applications of highly motivated scientists.
Heart development

Molecular mechanisms underlying heart development

The heart is the first organ to develop and become functional. It is furthermore the organ that is most prone to developmental malformations which is reflected by the large number of newborns diagnosed with a congenital heart defect. We apply small chemical compound screens, mass spectrometry as well as traditional loss-of-function strategies to contribute to the current knowledge of the molecular mechanisms underlying heart development. As a model we use zebrafish embryos, which develop a simple, yet functional, compartmentalized heart within 48 hours post fertilization.

Signal transduction

Signaling networks during development

Signal transduction serves as a form of communication between and within cells. We try to explore and better understand the physiological role of signal transduction during embryonic development. How are external signals transduced into a given cell and then between different compartments within a cell? How would a change in such signaling reflect a physiological or pathological state? And how could we manipulate signaling and with that potentially develop new therapies? To address these questions we focus on G protein-coupled receptor kinases (GRKs), which control a multitude of receptor-dependent and –independent signaling pathways.

Cilia biology

Cilia in development and disease

Cilia are microtubule-based protrusions from the surface of postmitotic cells that orchestrate a plethora of cellular signaling. Motile cilia are further capable of propelling body fluids and sensing fluid flows. When cells fail to form cilia or when cilia don’t function properly diverse afflictions can develop. Such ciliopathies include congenital malformations (i.e. impaired left-right asymmetry of internal organs), infertility, retinal degeneration or polycystic kidney disease. The clinical symptoms of cilia deficiencies also resemble those of centrosome deficiencies (i.e. microcephaly). We investigate cilia formation and function using zebrafish and cells, which we manipulate or which origin from patients with cilia defects.

Genetic variants analysis

Experimental validation of patient variants

We routinely evaluate genetic variants, which have been identified in patients, for their impact on protein expression and function. As model we use yet again the zebrafish as it offers testing of patient variants in an entire organism rather than an isolated cellular system. We cooperate with human geneticists and are always happy to offer such analyses to other labs. So far, we have analyzed variants of DVC1, a gene associated with progeria, and GRK5 variants, which we detected in patients with congenital heart defects and concomitant heterotaxy.

Zertifikate und Verbände

Focus: Top Nationales Krankenhaus 2025

Die deutschen Universitätsklinika

Kooperation für Transparenz und Qualität im Gesundheitswesen

Blauer Sterne Betrieb

Stern: Deutschlands Ausgezeichnete Arbeitgeber Pflege 24/25

Deutscher Nachhaltigkeitspreis

Qualitätspartnerschaft mit der PKV

Erfolgsfaktor Familie

Die Altersvorsorge für den Öffentlichen Dienst

Fördermittel aus dem Krankenhauszukunftsfond unter Finanzierung durch die Europäische Union
Springe zum Hauptteil
Internationale Patienten Presse