Publications

The latest on JGA research and individual updates from our research team

New JGA Update 2024

2024 JGA Research Update

The latest developments on the incredible progress our researchers are making

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New Jordan's Syndrome Publication (Nov. 2022)

The latest medical study documenting Jordan's Syndrome

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Standardization of Care

A study on the appropriate standard of care for Jordan's Syndrome

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PPP2R1A Publication

A new medical study providing the latest on PPP2R1A Research

August 2024 PPP2R5D Publication

2024 PPP2R5D Publication

Read the latest research on clinical characteristics of PPP2R5D

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2025 PPP2R5D Publications

Read the latest research on clinical characteristics of PPP2R5D (May 2025)

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De Novo Missense Variants in PPP2R5D

Linshan Shang. De Novo Missense Variants in PPP2R5D. Neurogenetics, January 2016.

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Gunnar Houge. B56δ-related protein phosphatase 2A dysfunction. jci.org, Volume 125, Number 8, August 2015.

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Mutations in the PP2A regulatory subunit B family genes

Chey Loveday. Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D. Human Molecular Genetics, 2015, Vol. 24, No. 17.

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Mice lacking PPP2R5D develop spatially restricted tauopathy

Justin V. Louis. Mice lacking phosphatase PP2A subunit PR61/B’δ (PPP2R5D) develop spatially restricted tauopathy by deregulation of CDK5 and GSK3β.

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Biochemical Dysfunction and Clinical Variability in PPP2R1A Neurodevelopmental Disorders

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine. October 2020.