TFEB variants and uses thereof

摘要

The invention refers to TFEB related molecules, as variants, mutants, truncated proteins, chimeras etc. that are constitutively localized in the nucleus of a eukaryote cell. Such molecules have a therapeutic applicability in all of disorders that need of an induction of the cell authophagic/lysosomal system, as lysosomal storage disorders, neurodegenerative diseases, hepatic diseases, muscle diseases and metabolic diseases.

主权项

1. A nucleic acid comprising a coding sequence encoding for a transcription factor EB (TFEB) variant protein,
(a) wherein the encoded TFEB variant protein comprises SEQ ID NO: 2, wherein Ser is replaced by a non-serine amino acid residue at positions 142 and/or 211 of SEQ ID NO: 2; or (b) wherein the encoded TFEB variant protein consists of amino acid residues 117 to 166 of SEQ ID NO: 2, wherein Ser is replaced by a non-serine amino acid residue at a position corresponding to position 142 of SEQ ID NO: 2; and wherein said variant protein induces autophagy.