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25/08/2021 | By Bronwen Martin

Progressive mitochondrial dysfunction is a common disease mechanism in different subtypes of Charcot-Marie-Tooth disease

New research findings by Prof. Vincent Timmerman’s group has revealed common hallmarks in motor neurons of patients with different subtypes of Charcot-Marie-Tooth disease (CMT) type 2, including impaired axonal transport and mitochondrial dysfunction. Targeting these underlying disease mechanisms could pave the way for treatments that can help a larger group of CMT patients.

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03/03/2021 | By Bronwen Martin

Important changes in the protein structure of a mutated chaperone cause Charcot-Marie-Tooth disease

New research from Prof. Vincent Timmerman’s lab, in collaboration with researchers from the University of Oxford, has elucidated the structural changes caused by a mutation in the molecular chaperone Hsp27 (HSPB1). Chaperones are a group of proteins that have functional similarity and assist in protein folding. This work not only sheds light on an important disease-causing mutation, it also reveals an important mechanism by which this chaperone functions.

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