Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
Harnessing the Evolution of Proteostasis Networks to Reverse Cognitive Dysfunction.
Reineke LC et al.
Biorxiv : the Preprint Server for Biology, 2025
Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B.
Fatalska A et al.
Molecular Cell, 2024
[Microcephaly-short stature-impaired glucose metabolism syndrome in a pedigree].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
Neuronal Regulation of eIF2α Function in Health and Neurological Disorders.
Moon SL et al.
Trends in Molecular Medicine, 2018
Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.
Cnop M et al.
Molecular Metabolism, 2017
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.
Mohammad S et al.
The Journal of Pediatrics, 2016
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Kernohan KD et al.
Human Molecular Genetics, 2015
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim B et al.
Diabetes, 2015
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