Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
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| Title: | Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression. |
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| Authors: | Ramage DE; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK., Grant DW; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK., Timms RT; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK. rtt20@cam.ac.uk. |
| Source: | Nature communications [Nat Commun] 2025 Feb 10; Vol. 16 (1), pp. 1511. Date of Electronic Publication: 2025 Feb 10. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-025-56782-1 |
