Ioannis Moustakas

Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids

Rossella Valenzano, Andrew McDonald, Carmen Gallego, Charlotte A. Andriessen et autres

BACKGROUND: Loss-of-function mutations in the ABCA4 gene cause Stargardt disease (STGD1), the most common inherited macular dystrophy leading to progressive central vision loss. METHODS: Here, we generated human induced pluripotent stem cell-derived retinal organoids harboring a premature stop codon in exon-24 of …

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Loss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis

Rossella Valenzano, Andrew McDonald, Carmen Gallego, Charlotte A. Andriessen et autres

Abstract Loss-of-function mutations in the ABCA4 gene cause Stargardt disease (STGD1), the most common inherited macular dystrophy leading to progressive central vision loss. Here, we generated hiPSC-derived retinal organoids harboring a premature stop codon in exon-24 of ABCA4 to evaluate the impact …

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Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells

Rossella Valenzano, Xuefei Lu, Andrew McDonald, Ioannis Moustakas et autres

Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of …

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Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells

Rossella Valenzano, Xuefei Lu, Andrew McDonald, Ioannis Moustakas et autres

Pathological USH2A mutations cause Usher Syndrome type II, characterized by progres-sive retinitis pigmentosa and hearing and balance impairment. This study aims to inves-tigate the cellular mechanisms underlying USH2A-related retinal degeneration using hu-man induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of …

Immune Dysregulation and Trophoblastic Dysfunction as a Potential Cause of Idiopathic Recurrent Pregnancy Loss

Sara Vasconcelos, Ana Costa Braga, Ioannis Moustakas, Bruno Cavadas et autres

Recurrent pregnancy loss (RPL) is a multifactorial condition affecting 1-5% of couples, often with unclear etiology. Idiopathic pregnancy losses (iPLs) are particularly challenging due to unknown molecular mechanisms. This study investigates the transcriptomic profiles of first-trimester products of conception (POC) from iPLs …

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O-300 Characterization of the transcriptional changes of human endometrium across the window of implantation during natural cycles reveals consistent dynamics

Irene Miguel-Escalada, B Gayete-Mor, Lucía Álvarez-González, Marta Trullenque et autres

Abstract Study question Is there a conserved endometrial transcriptomic signature during the secretory phase in true natural cycles of healthy women? Summary answer Endometrial gene expression dynamics during the secretory phase (LH + 2- LH + 9) are consistent across healthy women …

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Ex vivo removal of pro-fibrotic collagen and rescue of metabolic function in human ovarian fibrosis

Julieta S. del Valle, Ruben W Van Helden, Ioannis Moustakas, Wei Fu et autres

Tissue fibrosis, with the excessive accumulation of extracellular matrix, leads to organ dysfunction. The ovary shows signs of fibrosis from an early age, creating a permissive environment for ovarian cancer. A robust culture-platform to study human ovarian fibrosis would enable screens for …

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Tissue‐specific methylomic responses to a lifestyle intervention in older adults associate with metabolic and physiological health improvements

Lucy Sinke, Marian Beekman, Yotam Raz, Thies Gehrmann et autres

Across the lifespan, diet and physical activity profiles substantially influence immunometabolic health. DNA methylation, as a tissue-specific marker sensitive to behavioral change, may mediate these effects through modulation of transcription factor binding and subsequent gene expression. Despite this, few human studies have …

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P-426 Comprehensive study of the endometrial early/mid secretory phase during natural cycles reveals conserved molecular dynamics involved in the window of implantation

Filippo Zambelli, Sara Pietroforte, B Gayete-Mor, Joan Quı́lez et autres

Abstract Study question Is there a common transcriptomic signature in the endometrial early/mid secretory phase of healthy women in natural cycles? Summary answer We observed a conserved transcriptomic regulation of the endometrium around the window of implantation (WOI), consistent across donors, and …

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Syncytiotrophoblast Markers Are Downregulated in Placentas from Idiopathic Stillbirths

Sara Vasconcelos, Ioannis Moustakas, Miguel R. Branco, Susana Guimarães et autres

The trophoblast cells are responsible for the transfer of nutrients between the mother and the foetus and play a major role in placental endocrine function by producing and releasing large amounts of hormones and growth factors. Syncytiotrophoblast cells (STB), formed by the …

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Characterization of the human fetal gonad and reproductive tract by single-cell transcriptomics

Jasin Taelman, Sylwia Czukiewska, Ioannis Moustakas, Yolanda W. Chang et autres

During human fetal development, sex differentiation occurs not only in the gonads but also in the adjacent developing reproductive tract. However, while the cellular composition of male and female human fetal gonads is well described, that of the adjacent developing reproductive tract …

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AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype

Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, Ioannis Moustakas et autres

(Stem Cell Reports 18, 1123–1137; May 9, 2023) In the originally published manuscript by Boon N. et al (“AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype”), the first and last authors neglected to add …