Yale University Archives

C-subunit Mitochondrial Leak Channel in Fragile X Syndrome

September 20, 2023

Explore Yale’s groundbreaking study on mitochondrial leak channels, set to revolutionize Fragile X syndrome treatment. Funded by a $100,000 FRAXA grant.

Slack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice

August 14, 2023

FRAXA research grant enabled Yale researchers to investigate whether Slack potassium channel inhibitors can normalize behaviors in FMR1 knockout mice.

Novel Modulators of Potassium Channels to Treat Fragile X

January 2, 2019

FRAXA-funded Yale research showed disrupted Kv3.1 and Slack potassium channels impair neuronal timing in Fragile X. Published findings support Kv3.1 as a treatment target.

Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

February 26, 2015

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

Bcl-xL Inhibition as a Therapeutic Strategy for Fragile X Syndrome

September 12, 2014

Fragile X neurons show leaky mitochondria and excess Bcl-xL–driven synapses. Targeting this pathway may restore energy balance and healthier brain development.

Potassium Channel Modulators to Treat Fragile X

January 7, 2014

FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.

The Slack Potassium Ion channel is a Therapeutic Target for Fragile X

January 7, 2011

With $282,000 in funding from FRAXA Research Foundation, Dr. Leonard Kaczmarek and colleagues explored association of Slack channels with the Fragile X protein (FMRP).