001     279478
005     20250710100950.0
037 _ _ |a DZNE-2025-00805
100 1 _ |a Müller, Stephan A
|0 P:(DE-2719)2810938
|b 0
|u dzne
245 _ _ |a Dataset: Proteome analysis of amniotic fluid from fetuses with myelomeningocele from singleton pregnancies
260 _ _ |c 2025
|b PRoteomics IDEntifications Database
336 7 _ |a MISC
|2 BibTeX
336 7 _ |a Dataset
|b dataset
|m dataset
|0 PUB:(DE-HGF)32
|s 1752049586_17545
|2 PUB:(DE-HGF)
336 7 _ |a Chart or Table
|0 26
|2 EndNote
336 7 _ |a Dataset
|2 DataCite
336 7 _ |a DATA_SET
|2 ORCID
336 7 _ |a ResearchData
|2 DINI
520 _ _ |a Despite 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.
536 _ _ |a 352 - Disease Mechanisms (POF4-352)
|0 G:(DE-HGF)POF4-352
|c POF4-352
|f POF IV
|x 0
700 1 _ |a Lichtenthaler, Stefan
|0 P:(DE-2719)2181459
|b 1
|u dzne
787 0 _ |a Guilbaud, Lucie et.al.
|d New York, NY [u.a.] : Elsevier, 2025
|i RelatedTo
|0 DZNE-2025-00165
|r
|t Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid.
856 4 _ |u https://wwwdev.ebi.ac.uk/pride/archive/projects/PXD048510
909 C O |o oai:pub.dzne.de:279478
|p VDB
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 0
|6 P:(DE-2719)2810938
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 1
|6 P:(DE-2719)2181459
913 1 _ |a DE-HGF
|b Gesundheit
|l Neurodegenerative Diseases
|1 G:(DE-HGF)POF4-350
|0 G:(DE-HGF)POF4-352
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Disease Mechanisms
|x 0
914 1 _ |y 2025
920 1 _ |0 I:(DE-2719)1110006
|k AG Lichtenthaler
|l Neuroproteomics
|x 0
980 _ _ |a dataset
980 _ _ |a VDB
980 _ _ |a I:(DE-2719)1110006
980 _ _ |a UNRESTRICTED


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