Transregional Collaborative Research Centre 152

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P04 - Role of TRPML channels in neuro(patho)physiology and validation of TRPML channels as therapeutic targets for neurodegenerative diseases

TRPML1 and its relatives TRPML2 and TRPML3 (also known as MCOLN1-3) are non-selective cation channels expressed in the endolysosomal system. Mutations in the human Trpml1 gene are causative for the lysosomal storage disorder mucolipidosis type IV (ML IV). The clinical symptoms of this disease include mental and psychomotor retardation, neurodegeneration and retinal degeneration which eventually leads to blindness. In this proposal, the role of TRPML channels in the CNS (central nervous system), with a particular focus on TRPML3 (Aim 1) and the potential of TRPML channels as therapeutic targets for the treatment of neurodegenerative diseases (Aim 2) shall be elucidated in detail.

Christian Grimm

Univ.-Prof. Dr. Dr. Christian Grimm

Ludwig-Maximilians-Universität in Munich