Associated Papers
The microcephaly-associated protein YIPF5 differentially regulates ER export.
Bruno F et al.
Iscience, 2026
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
Exploring proinsulin proteostasis: insights into beta cell health and diabetes.
Zavarzadeh PG et al.
Frontiers in Molecular Biosciences, 2025
Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype.
Giannakopoulos A et al.
Hormones (athens, Greece), 2024
Proinsulin folding and trafficking defects trigger a common pathological disturbance of endoplasmic reticulum homeostasis.
Arunagiri A et al.
Protein Science : a Publication of the Protein Society, 2024
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E et al.
The Journal of Clinical Investigation, 2020
YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding.
Pollin TI et al.
The Journal of Clinical Investigation, 2020
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