Cristina Al-Khalili Szigyarto

KTH Royal Institute of Technology

Keywords
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Key Publications

1. Johansson C, Schrama EJ, Kotol D, Hober A, Koeks Z, van de Velde NM, Verschuuren JJGM, Niks EH, Edfors F, Spitali P, Al-Khalili Szigyarto C. Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS. Skelet Muscle. 2025 Jun 7;15(1):15. doi: 10.1186/s13395-025-00385-3. PMID: 40483507; PMCID: PMC12144774.

2. Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):505-517. doi: 10.1002/jcsm.12517. Epub 2019 Dec 27. PMID: 31881125; PMCID: PMC7113516.

3. Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson Å, Kampf C, Sjöstedt E, Asplund A, Olsson I, Edlund K, Lundberg E, Navani S, Szigyarto CA, Odeberg J, Djureinovic D, Takanen JO, Hober S, Alm T, Edqvist PH, Berling H, Tegel H, Mulder J, Rockberg J, Nilsson P, Schwenk JM, Hamsten M, von Feilitzen K, Forsberg M, Persson L, Johansson F, Zwahlen M, von Heijne G, Nielsen J, Pontén F. Proteomics. Tissue-based map of the human proteome. Science. 2015 Jan 23;347(6220):1260419. doi: 10.1126/science.1260419. PMID: 25613900.

SciLifeLab / Contact / Cristina Al-Khalili Szigyarto

Preclinical research on monogenic diseases

We focus on rare neuromuscular dystrophies that are life-threatening disorders caused by mutations in single genes. Such diseases, like Duchenne Muscular Dystrophy, are characterised by increasing muscle deterioration, with loss of walking ability, difficulty to breathe and ultimately heart failure. Our projects bring together multi-disciplinary international groups of experts comprising biotechnologists, physicians, bioinformaticians, neurologists, geneticists and patient organizations, aiming to improve patient life-quality and ultimately cure diseases.

Currently we are focusing on:

  1. Designing patient representative biological models for testing drug efficacy and safety prior to clinical trials.
    Cell Models
  2. Develop specific, sensitive and reliable biomarker tests for diagnostics, and disease progression and treatment outcome monitoring.
    Biomarker Development
  3. Explore disease variation by using omics technologies.
    Omics Technologies

Group Members

Albert Jiménez Requena
Petter Nhi
Amela Peco

Last updated: 2025-12-05

Content Responsible: Hampus Pehrsson Ternström(hampus.persson@scilifelab.uu.se)