000279478 001__ 279478
000279478 005__ 20250710100950.0
000279478 037__ $$aDZNE-2025-00805
000279478 1001_ $$0P:(DE-2719)2810938$$aMüller, Stephan A$$b0$$udzne
000279478 245__ $$aDataset: Proteome analysis of amniotic fluid from fetuses with myelomeningocele from singleton pregnancies
000279478 260__ $$bPRoteomics IDEntifications Database$$c2025
000279478 3367_ $$2BibTeX$$aMISC
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000279478 520__ $$aDespite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Proteome analysis was conducted in 18 MMC and 18 healthy singleton fetuses, as well as in 5 dichorionic pregnancies with MMC fetuses and their healthy co-twins. ELISA tests were used to validate proteome results. Biochemical analysis revealed anal incontinence in 37% of MMC cases (p<0.0001), while controls had a normal profile. Proteomics identified 2453 quantified proteins, with 39 significantly up-regulated and 10 down-regulated in MMC. Up-regulated proteins included ectodomains of CHL1, APLP1, SEZ6, SEZ6L, which are generated by the Alzheimer’s disease-linked protease BACE1. Some proteins varied with disease and gestational age, e.g., CNTN1, NEO1, and DRAXIN. COL11A2 and EFNB1 decreased in MMC, rising in controls. Contrary to the in-utero inflammation or meconium neurotoxicity hypothesis, our results suggest a CSF leak in AF. Abundance of brain and spinal cord proteins may aid diagnosis, characterizing cases and informing prognosis for couples.
000279478 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x0
000279478 7001_ $$0P:(DE-2719)2181459$$aLichtenthaler, Stefan$$b1$$udzne
000279478 7870_ $$0DZNE-2025-00165$$aGuilbaud, Lucie et.al.$$dNew York, NY [u.a.] : Elsevier, 2025$$iRelatedTo$$r$$tMolecular insights into myelomeningocele via proteomic analysis of amniotic fluid.
000279478 8564_ $$uhttps://wwwdev.ebi.ac.uk/pride/archive/projects/PXD048510
000279478 909CO $$ooai:pub.dzne.de:279478$$pVDB
000279478 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810938$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
000279478 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2181459$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b1$$kDZNE
000279478 9131_ $$0G:(DE-HGF)POF4-352$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vDisease Mechanisms$$x0
000279478 9141_ $$y2025
000279478 9201_ $$0I:(DE-2719)1110006$$kAG Lichtenthaler$$lNeuroproteomics$$x0
000279478 980__ $$adataset
000279478 980__ $$aVDB
000279478 980__ $$aI:(DE-2719)1110006
000279478 980__ $$aUNRESTRICTED