prikaz prve stranice dokumenta Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
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Scientific paper - Original scientific paper
Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
Journal of Clinical Medicine, 12 (2023), 15; 5060. https://doi.org/10.3390/jcm12155060
Babić, Marija; Banović, Maria; Berečić, Ivana; Banić, Tea; Babić Leko, Mirjana; Ulamec, Monika; Junaković, Alisa; Kopić, Janja; Sertić, Jadranka; Barišić, Nina; Šimić, Goran

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Babić, M., Banović, M., Berečić, I., Banić, T., Babić Leko, M., Ulamec, M. ... Šimić, G. (2023). Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy. Journal of Clinical Medicine, 12. (15). doi: 10.3390/jcm12155060

Babić, Marija, et al. "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy." Journal of Clinical Medicine, vol. 12, no. 15, 2023. https://doi.org/10.3390/jcm12155060

Babić, Marija, Maria Banović, Ivana Berečić, Tea Banić, Mirjana Babić Leko, Monika Ulamec, Alisa Junaković, et al. "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy." Journal of Clinical Medicine 12, no. 15 (2023). https://doi.org/10.3390/jcm12155060

Babić, M., et al. (2023) 'Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy', Journal of Clinical Medicine, 12(15). doi: 10.3390/jcm12155060

Babić M, Banović M, Berečić I, Banić T, Babić Leko M, Ulamec M, and sur.. Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy. Journal of Clinical Medicine [Internet]. 2023 August 01 [cited 2024 November 08];12(15). doi: 10.3390/jcm12155060

M. Babić, et al., "Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy", Journal of Clinical Medicine, vol. 12, no. 15, August 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:001529. [Accessed: 08 November 2024]

Metadata
Title (english)Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
AuthorMarija Babić
AuthorMaria Banović
AuthorIvana Berečić
AuthorTea Banić
AuthorMirjana Babić Leko
AuthorMonika Ulamec
AuthorAlisa Junaković
AuthorJanja Kopić
AuthorJadranka Sertić
AuthorNina Barišić
AuthorGoran Šimić
Author's institutionUniversity of Zagreb
School of Medicine
(Croatian Institiute for Brain Research)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pathology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Neuroscience
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pathology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene has the SMN2 gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as SMN2 pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Clinical Medicine
Numberingvol. 12, no. 15, 5060
e-ISSN2077-0383
DOIhttps://doi.org/10.3390/jcm12155060
URN:NBNurn:nbn:hr:105:001529
Publication2023-08-01
ProjectNumber: IP-2019-04-3584
Title (croatian): Uloga krvno-moždane barijere, urođene imunosti i oligomerizacije tau proteina u patogenezi Alzheimerove bolesti
Title (english): Role of blood-brain barrier, innate immunity, and tau protein oligomerization in the pathogenesis of Alzheimer's disease
Acronym: ALZ-BBB-INNATETAU
Leader: Goran Šimić
Jurisdiction: Croatia
Funding stream: Research Projects
ProjectNumber: KK.01.1.1.01.0007
Title (croatian): Znanstveni centar izvrsnosti - eksperimentalna i klinička istraživanja hipoksijsko-ishemijskog oštećenja mozga u perinatalnoj i odrasloj dobi
Title (english): Scientific center of excellence - Experimental and clinical research of hypoxic-ischemic brain damage in perinatal and adulthood
Acronym: ZCI-NEURO
Leader: Miloš Judaš
Jurisdiction: eu
Funding stream: European Regional Development Fund
Document URLhttps://www.mdpi.com/2077-0383/12/15/5060
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2024-09-02 08:03:27