September 10, 2025ACS OmegaOpen Access

Structural Implications of Missense Point Mutations in Shwachman–Bodian–Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation

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Discussion

Combined SAXS and molecular dynamics analysis reveals mutation impacts on SBDS binding to ribosomes and EFL1.

Missense mutations in SBDS affect its structural dynamics, impacting binding to EFL1 and ribosome interactions.
MD simulations reveal that mutations I167T, R175W, and I212T show weaker interactions with EFL1, influencing SBDS functionality.
SAXS data indicate that specific SBDS mutants alter conformational state distribution in solution, corroborating computational findings.
The integrated computational and experimental approach enhances understanding of SBDS's role in ribosome biogenesis and associated disorders.

Mattiotti et al. (2025) studied this question.

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