Originally published on March 19, 2014.

Cure SMA is leading the way to a world without SMA by advancing a comprehensive research program, of which basic research is a key component. Cure SMA has awarded 79 basic grants for a total of $9,507,612 in the past 10 years. Dr. Ke-Jun Han at the University of Colorado will receive $95,000 to explore the transport of SMN protein into motor axons.

Investigate Ubiquitination- Dependent SMN Transport

Objective: The project goal is to determine how SMN protein is localized and transported to axons. The project will assess whether modification of SMN with a tag called ubiquitin regulates this process.
Research Strategy: The team will use biochemical and cell biological techniques to determine 1) how SMN is recruited into a subcellular compartment called the trans Golgi network, where proteins are sorted for transport to different parts of the cell; and 2) whether modification of SMN with the tag ubiquitin inside the golgi network regulates whether SMN protein and SMN mRNA is transported to the motor neuron axons.
Significance: These findings could unravel a novel role for the ubiquitin modification of SMN in regulating SMN function and localization, which has potential implications in the understanding of SMA pathogenesis and points of intervention for possible treatments.

Meet Dr. Han:

Who are you?
I am Kejun Han, PhD, Senior Postdoctoral Researcher in the Department of Biochemistry & Molecular Genetics, University of Colorado School of Medicine. 

How did you first become involved with SMA research?
In 2010, I identified SMN as a USP9x-interacting protein. This protein is involved in tagging proteins with a marker called ubiquitin. I discovered different ubiquitination of SMN and SMND7, which stimulates us to study the functions of SMN ubiquitination.

What is your current role in SMA research?
Our lab focuses on identifying genes and proteins that influence SMN protein levels. Currently, I am investigating the role of SMN ubiquitination in SMN transport along the motor axons.

2014 Cure SMA Research Mission and Funding

The overall mission at Cure SMA is a world without SMA. Making this happen requires scientific research investments. Thus, our main research goal at Cure SMA is to accelerate the discovery of an effective treatment and cure for SMA by funding and advancing a comprehensive research program, including:

•    Basic Research to reveal the best ways of making SMA drugs,
•    Drug Discovery to make new drugs,
•    Developing Clinical Trial infrastructure to help test new drugs, and
•    Clinical Care Research to improve the quality of life in SMA patients.

In addition to the basic research funding announced in this edition of Compass, Cure SMA will invest in more research in 2014 to advance our vision of a world without SMA. Please be on the lookout for two upcoming Requests for Proposals (RFPs) for additional research funding from Cure SMA in 2014 in the following research areas: 1) Drug Discovery – Overseen by the Translational Advisory Council, and 2) Clinical Care – Overseen by the Medical Advisory Council.