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.
  • Bamborschke D, Daimaguler HS, Hahn A, Hussain MS, Nurnberg P, and Cirak S (2020a). Mutation in CEP135 causing primary microcephaly and subcortical heterotopia. American journal of medical genetics Part A 10.1002/ajmg.a.61762.
     
  • Bamborschke D, Ozdemir O, Kreutzer M, Motameny S, Thiele H, Kribs A, Dotsch J, Altmuller J, Nurnberg P, and Cirak S (2020b). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. American journal of medical genetics Part A 10.1002/ajmg.a.61917.
     
  • Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, and Cirak S (2020). The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Journal of human genetics 10.1038/s10038-020-0803-1.
     
  • Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, Sachova J, Hailstone R, Brazina J, Ghosh S, Cirak S, Gleeson JG, Ahel I, and Caldecott KW (2020). Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. Nat Commun 11, 3391.
     
  • Paketci C, Karakaya M, Edem P, Bayram E, Keller N, Daimaguler HS, Cirak S, Jordanova A, Hiz S, Wirth B, and Yis U (2020). Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies. Revue neurologique 10.1016/j.neurol.2020.04.016.
     
  • Pergande M, Motameny S, Ozdemir O, Kreutzer M, Wang H, Daimaguler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman O, Koy A, Hahn A, Reimann J, Schoner K, Schanzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmuller J, Nurnberg P, Thiele H, Heller R, and Cirak S (2020a). Correction: The genomic and clinical landscape of fetal akinesia. Genet Med 10.1038/s41436-020-0839-9.
     
  • Pergande M, Motameny S, Ozdemir O, Kreutzer M, Wang H, Daimaguler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman O, Koy A, Hahn A, Reimann J, Schoner K, Schanzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmuller J, Nurnberg P, Thiele H, Heller R, and Cirak S (2020b). The genomic and clinical landscape of fetal akinesia. Genet Med 22, 511-23.
     
  • Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP, Investigators C, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, t Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmuller H, Ferlini A, Muntoni F, and Aartsma-Rus A (2020). TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur J Hum Genet 28, 815-25.
     
  • Sprute R, Jergas H, Olmez A, Alawbathani S, Karasoy H, Salimi Dafsari H, Becker K, Daimagueler HS, Nurnberg P, Muntoni F, Topaloglu H, Uyanik G, and Cirak S (2020a). Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. American journal of medical genetics Part A 10.1002/ajmg.a.61951.
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

Group Members

Dr. Daniel Bamborschke, medical doktor
Lea Beensen, student
Hülya-Sevcan Daimagüler, PhD student
Herrera    Oskar, BA-Student        
Mona Kreutzer, MD student               
Dr. Abubakar Moawia, Postdoc
Dr. Özkan Ozdemir, Postdoc
Rosanne Sprute, physician/doctoral student
Nasir Uddin, MA-student