| abstract |
The invention relates to constitutively active mutants of the transcription factor TFEB, which can mutate the lysine at one or both sites of positions 219 and 347 and/or can also mutate the glutamic acid at one or both sites of positions 221 and 349, to eliminate protein SUMOylation. By replacing these residues, whether of positions 219 and/or 221 and/or 347 and/or 349, with any other amino acid (such as arginine or alanine), a mutated TFEB is produced, which more actively induces the expression of genes and synthesis of autophagy-lysosomal pathway proteins. The invention can be used for disorders such as lysosomal storage disorders, neurodegenerative diseases, liver diseases, muscular and metabolic diseases and/or skin ageing processes or disorders. |