“Discovery of new targets for therapeutic interventions in ARSACS disease”- Dr. Nevan Krogan

In Current Research by ARSACS

Video describing Dr.Nevan Krogan’s project “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 understanding of the biology of disorders. Protein complexes and networks work together to ensure healthy cell physiology and are altered in disease. Uncovering …

“Towards the Structural Determination of Sacsin”- Dr Walid Houry

In Current Research by ARSACS

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 and stress conditions as well as for other cell biological studies. Furthermore, the cell line …

Is ARSACS a Tauopathy?- Dr. Paul Chapple

In Current Research by ARSACS

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 of sacsin, and impaired formation of structures called focal adhesions that are important for cell movement. We are also looking at links between ARSACS and …

“Creating an Open Science Repository of ARSACS hiPSCs”- Dr. Nicolas Dupré

In Current Research by ARSACS

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 patients’ cells into human induced pluripotent stem cells (hiPSCs) and then to redifferentiate hiPSC into neural cells. This strategy is being …

“Characterization of Tau Hyperphosphorylation in ARSACS”- Dr. Anthony Hickey et Dr. Justin Wolter

In Current Research by ARSACS

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 North Carolina 120 Mason Farm Road CB# 7356, Chapel Hill NC 27599 Tel: (919) 962-9819 ahickey@unc.edu Dr.Justin Wolter 120 …

“Understanding the role of Metals in ARSACS” – Dr. Graham George

In Current Research by ARSACS

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 been investigated for ARSACS. Our research will employ state-of-the-art synchrotron X-ray methods to establish whether or not metal …

“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” -Dr. Alanna Watt, & Dr. Anne McKinney

In Current Research by ARSACS

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 Purkinje cells that are more susceptible to cell death in ARSACS. Could the loss of NHE6 contribute to Purkinje cell death? Proper …

“Targeting mitochondrial fission in the Sacs KO mouse model of ARSACS”- Dr. Stefan Strack

In Current Research by ARSACS

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. Mitochondrial dysfunction due to defective mitochondrial fission has been proposed as a primary cause of neurodegeneration in ARSACS. Other evidence suggests …

“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil

In Current Research by ARSACS

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 gene vectors and, because of the chaperone function of sacsin, to investigate the potential of alternative therapies already in …