Vidéo décrivant le projet du Dr Nevan Krogan “Discovery of new targets for therapeutic interventions in ARSACS disease” "The development of novel treatments, through the discovery of new drugs or the repurposing of FDA-approved drugs and INDs, requires a detailed...

The Houry group is interested in characterizing the structure and function of Sacsin. To this end, the group has generated a cell line expressing endogenously tagged SACS gene. This will be used as a tool to study the localization of the protein under different growth...

ARSACS is characterised by the lack of sacsin expression and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...

ARSACS is a devastating neurological disorder caused by the loss of the Sacsin protein. Sacsin knockout (KO) mice recapitulate the cardinal symptoms of ARSACS, and research with these mice could therefore both help understand and ultimately cure the disorder....

Aim 1 Identifying druggable Targets for potential ARSACS treatment We have recently identified that the endosomal Na+/H+ exchanger NHE6, which is involved in regulating pH, is downregulated in anterior Purkinje cells of Sacs/ mice. Interestingly, these are the...

Seeking a link between ARSACS and essential metals ARSACS is one of approximately 40 known human diseases that involve protein misfolding. Apart from ARSACS all of these diseases have been linked to dysregulation of essential transition metal ions, but this has never...

The goal is to explore the misregulation of Tau in ARSACS, and evaluate the efficacy of modulating levels of Tau and associated kinases in the ARSACS mouse model. Grant : $139,962 Contact: Dr. Anthony Hickey, Director of UNC Catalyst for Rare Diseases, University of...

Studying ARSACS pathophysiology and screening for therapeutics using sick human neural cells instead animal cells or cell lines is highly desirable but challenging because of the difficulty to access these cells without harming patients. It is possible to reprogram...

Currently we are looking carefully at sacsin’s interaction with cytoskeletal proteins and defining the molecular mechanisms by which sacsin’s loss disrupts cytoskeletal function. This includes research examining a link between cytoskeletal disruption, caused by loss...