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12:30 - 13:30 18 June 2013
Neurodevelopmental, neurodegenerative and neuromuscular disorders associated with defective autophagy
Leolin Price Lecture Theatre |
Institute of Child Health,
30 Guilford St | London | WC1N 1EH | United Kingdom
Speaker information: Heinz Jungbluth, MD PhD. Senior Lecturer & Consultant in Paediatric Neurology, Guy’s & St Thomas' NHS Foundation Trust, London; King’s College, London. Host: Seminar series of the MRC for Neuromuscular Diseases - Dubowitz Neuromuscular Centre.
Abstract: Autophagy is an evolutionarily highly conserved lysosomal degradation pathway with fundamental roles in cellular homeostasis. We have recently identified recessive mutations in the key autophagy regulator EPG5 as the cause of Vici syndrome, a multisystem disorder charachterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. These findings indicate Vici syndrome as a paradigm of a multisystem disorder due to defective autophagy. Clinical, histopathological and genetic findings suggest a link with other neurodevelopmental, neurodegenerative and neuromuscular disorders.
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