Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Hepatic glycogen storage disease type IX γ2 (GSD IX γ2) is a severe, liver-specific subtype of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95 % of patients with GSD IX γ2 progress to liver fibrosis and cirrhosis. Despite disease severity, the long-term natural history of GSD IX γ2 liver disease progression is not known.

G6PD inhibition sensitizes ovarian cancer cells to oxidative stress in the metastatic omental microenvironment.

Ovarian cancer (OC) is the most lethal gynecological malignancy, with aggressive metastatic disease responsible for the majority of OC-related deaths. In particular, OC tumors preferentially metastasize to and proliferate rapidly in the omentum. Here, we show that metastatic OC cells experience increased oxidative stress in the omental microenvironment.

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2 mouse model.

Introduction: Liver Glycogen Storage Disease IX is a rare metabolic disorder of glycogen metabolism caused by deficiency of the phosphorylase kinase enzyme (PhK). Variants in the PHKG2 gene, encoding the liver-specific catalytic γ2 subunit of PhK, are associated with a liver GSD IX subtype known as PHKG2 GSD IX or GSD IX γ2. There is emerging evidence that patients with GSD IX γ2 can develop severe and progressive liver disease, yet research regarding the disease has been minimal to date.

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Introduction: Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels and exome sequencing, the diagnosis of liver GSD IX did not allow for differentiation of these subtypes.

A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Background: The mutations of KCNMA1 BK-type K channel have been identified in patients with various movement disorders. The underlying pathophysiology and corresponding therapeutics are lacking.

Objectives: To report our clinical and biophysical characterizations of a novel de novo KCNMA1 variant, as well as an effective therapy for the patient's dystonia-atonia spells.

Citizen science-based water quality monitoring: Constructing a large database to characterize the impacts of combined sewer overflow in New York City.

To protect recreational water users from waterborne pathogen exposure, it is crucial that waterways are monitored for the presence of harmful bacteria. In NYC, a citizen science campaign is monitoring waterways impacted by inputs of storm water and untreated sewage during periods of rainfall. However, the spatial and temporal scales over which the monitoring program can sample are constrained by cost and time, thus hindering the construction of databases that benefit both scientists and citizens.