The Hu Lab

The Hu lab is interested in studying molecular and cellular mechanisms involved in neuro-degeneration.

Frontotemporal Lobar Degeneration with ubiquitin and TDP-43 positive inclusions (FTLD-U) is a very common early onset dementia disease often associated with Amyotrophic Lateral Sclerosis (ALS). Mutations in Progranulin (PGRN), resulting in PGRN haplo-insufficiency, are one of the main causes of FTLD-TDP. A transmembrane protein of unknown function, TMEM106B, is a risk factor for FTLD-TDP with PGRN mutations. More recently, mutations in C9orf72, a gene of unknown function, were found to the main cause of mixed ALS/FTLD phenotypes. We are trying to understand the cellular functions of PGRN, TMEM106B and C9orf72 as well as other genes implicated in FTLD/ALS. We hope our studies will not only shed light on the molecular and cellular mechanisms of FTLD but also on the regulation of normal cellular functions by these FTLD proteins, such as regulation of autophagy-lysosome functions by PGRN, TMEM106B and C9orf72.