Abstract Search

ea0088004 | Abstracts | BES2022

Understanding pathogenic mechanisms and identifying therapeutic avenues in MEHMO syndrome using patient’s induced pluripotent stem cells

Hadis Shakeri , Izzet Mehmet Akcay , Mayank Bansal , Ying Cai , Chiara Vinci , Nathalie Pachera , Hanne Willems , Federica Fantuzzi , Yue Tong , Daniela Gasperikova , Miriam Cnop

Background and aims: MEHMO is an X-linked syndrome comprising Mental retardation, Epilepsy, Hypogenitalism, Microcephaly and Obesity. It is caused by a damaging p.Ile465Serfs frameshift mutation in EIF2S3 that encodes the &square; subunit of eukaryotic translation initiation factor 2 (eIF2), essential for protein synthesis and regulation of the integrated stress response. Patients with this EIF2S3 mutation also have neonatal hypoglycemia, early onset insulin-...

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ea0057003 | Use of 3D culture systems to generate human induced pluripotent stem cell-derived β-cells in vitro | BES2018

Use of 3D culture systems to generate human induced pluripotent stem cell-derived β-cells in vitro

Federica Fantuzzi , Sanna Toivonen , Alex Schiavo Andrea , Nathalie Pachera , Bahareh Rajaei , Ying Cai , Mariana Igoillo-Esteve , Eizirik Decio L , Miriam Cnop

Background and aims: Diabetes currently affects 425 million people worldwide. Pancreatic β-cell failure is central in the development and progression of type 1 and type 2 diabetes. Diabetes research is slowed by the difficulty to study the diseased tissue, i.e. human islet bcells: these are only available in a few donor organ transplantation centers worldwide. β-cells differentiated from human induced pluripotent stem cells (hiPSCs) represent a novel cell source. Cur...

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ea0071003 | YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: translational research | BES2020

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

Maria Lytrivi , Elisa De Franco , Hazem Ibrahim , Hossam Montaser , Matthew Wakeling , Federica Fantuzzi , Kashyap Patel , Celine Demarez , Ying Cai , Mariana Igoillo-Esteve , Cristina Cosentino , Vaino Lithovius , Helena Vihinen , Eija Jokitalo , Thomas W Laver , Matthew B Johnson , Toshiaki Sawatani , Hadis Shakeri , Nathalie Pachera , Belma Haliloglu , Mehmet Nuri Ozbek , Edip Unal , Ruken Yildirim , Tushar Godbole , Melek Yildiz , Banu Aydin , Angeline Bilheu , Ikuo Suzuki , Sarah E Flanagan , Pierre Vanderhaeghen , Valerie Senee , Cecile Julier , Piero Marchetti , Decio L Eizirik , Sian Ellard , Jonna Saarimaki-Vire , Timo Otonkoski , Andrew T Hattersley , Miriam Cnop

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...

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Endocrine Abstracts

Understanding pathogenic mechanisms and identifying therapeutic avenues in MEHMO syndrome using patient’s induced pluripotent stem cells

Use of 3D culture systems to generate human induced pluripotent stem cell-derived β-cells in vitro

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

BiosciAbstracts