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A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
- Published in:
- Molecular Vision, 2021, v. 27, p. 179
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- Article
A trimethoprim derivative impedes antibiotic resistance evolution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23191-z
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- Article
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79570-x
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- Article
Tau local structure shields an amyloid-forming motif and controls aggregation propensity.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10355-1
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- Article
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1945, doi. 10.1002/humu.24452
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- Article