Center for Molecular Medicine Cologne

Sebahattin Cirak - assoc. JRG 02

Primary Muscle Disease

Group research focus

Disease gene discovery for muscular dystrophies, myopathies and brain malformations.
Molecular disease mechanisms in congenital muscular dystrophies in particular dystroglycanopathies.
Protein biochemistry of enzymes involved in dystroglycan glycosylation and its translational application.

Translational research, natural history and biomarkers discovery for CMD and LGMD.
Natural history studies  and Biomarker discovery for DMD.
RNA therapeutics and further development of exon skipping therapies for DMD.

Selected Publications

  1. Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. The genomic and clinical landscape of fetal akinesia. Genet Med. 2019 Nov 4. doi: 10.1038/s41436-019-0680-1. [Epub ahead of print] PubMed PMID: 31680123.

  2. Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019. PubMed PMID: 31680794; PubMed Central PMCID: PMC6807680.

  3. Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1.
    Epub 2019 Jun 5. Erratum in: J Hum Genet. 2019 Aug 6;:. PubMed PMID: 31165786.

  4. Bender D, Kaczmarek AT, Santamaria-Araujo JA, Stueve B, Waltz S, Bartsch D, Kurian L, Cirak S, Schwarz G. Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.Hum Mol Genet. 2019 May 25. pii: ddz109. doi: 10.1093/hmg/ddz109. [Epub ahead of print] PubMed PMID: 31127934.
Dr. Sebahattin Cirak CMMC Cologne
Dr. Sebahattin Cirak

Clinic and Polyclinic for Pediatric and Adolescent Medicine / RG location - CMMC Building

CMMC - assoc. Junior Research Group 02

+49 221 478 89680

+49 221 478 7789

Clinic and Polyclinic for Pediatric and Adolescent Medicine / RG location - CMMC Building

Robert-Koch-Str. 21

50931 Cologne

https://kinderklinik.uk-koeln.de/forschung/musculo-skelettale-erkrankungen/

CMMC Profile Page

Curriculum Vitae (CV)

Publications - Sebahattin Cirak

Link to PubMed