Projects
Disturbances in Phospholipid Turnover in Charcot-Marie-Tooth disease Type 1A Hasselt University
Treatment of autophagy deficits in Charcot-Marie-Tooth disease caused by mutations in the small heat shock proteins HSPB1 and HSPB8. University of Antwerp
Investigation of axonal transport deficits in Charcot-Marie-Tooth disease type 1A and modification through selective inhibition of histone deacetylase 6 KU Leuven
Charcot-Marie-Tooth disease (CMT) is the most common inherited neurological disorder of the peripheral nervous system (PNS). Patients suffer from mild-to-severe muscle loss at the most distal regions of their body in a ‘stock-glove’ distribution. Duplications in the gene coding for peripheral myelin protein 22 (PMP22) causes the most common form of CMT, CMT type 1A (CMT1A). PMP22 is an essential protein for the initiation and maintenance of ...
Local protein breakdown in Charcot-Marie-Tooth disease. KU Leuven
The goal of this project is to investigate the potential of HDAC6 as a therapeutic target in other rodent models of Charcot-Marie-Tooth disease (CMT) caused by other mutated genes) and in acquired peripheral neuropathies.
Protein misfolding in Charcot-Marie-Tooth disease type 1A: opening the gates for cathepsin B and peripheral nerve demyelination. Hasselt University
Identification of therapies targeting lipid metabolism and myelination for Charcot-Marie-Tooth disease type 1A using patient-derived Schwann cells KU Leuven
In the inherited demyelinating peripheral neuropathy Charcot-Marie-Tooth disease type 1-A (CMT1A), peripheral myelin protein 22 (PMP22) is duplicated in Schwann cells leading to abnormal differentiation and progressive demyelination. Cholesterol is essential for myelination and PMP22 regulates its trafficking: CMT1A rodent models overexpressing PMP22 show downregulated cholesterol and lipid metabolism with reduced transcription of genes ...