Molecular Insights into IAHSP: Influence of the R1611W Mutation on the VPS9 Domain of Alsin.

Marcello Miceli, Cécile Exertier, Elena Gugole, Beatrice Vallone, Marco Agostino Deriu

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Article in ACS omega, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Marcello MiceliPolitoBIOMed Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Torino 10129, Italy.ORCID https://orcid.org/0000-0002-2763-5407

Cécile ExertierInstitute of Molecular Biology and Pathology, Italian National Research Council (ibpm-Cnr), c/o Department Biochemical Sciences, Sapienza University of Rome, Ed. CU027, P.le A.Moro 5, Rome 00185, Italy.ORCID https://orcid.org/0000-0001-7457-6895

Elena GugoleInstitute of Molecular Biology and Pathology, Italian National Research Council (ibpm-Cnr), c/o Department Biochemical Sciences, Sapienza University of Rome, Ed. CU027, P.le A.Moro 5, Rome 00185, Italy.

Beatrice ValloneDepartment of Biochemical Sciences "ALESSANDRO ROSSI FANELLI", Università La Sapienza, Rome 00185, Italy.ORCID https://orcid.org/0000-0003-0058-9049

Marco Agostino DeriuPolitoBIOMed Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Torino 10129, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations of the alsin protein have been linked to infantile-onset ascending hereditary spastic paraplegia (IAHSP), a rare neurodegenerative disease. More precisely, the pathological R1611W mutation has been identified in the Vacuolar Protein Sorting 9 (VPS9) domain, which acts as a guanine nucleotide exchange factor (GEF) for Rab5. This mutation results in the expression of tryptophan instead of arginine that alters the oligomeric state of alsin and its GEF functions. Insights into the conformational structure of the wild-type or mutant VPS9 domain may help elucidate the mechanisms involved in the onset of the disease. In this study, we combined

Identifiers

PMID41280805

DOI10.1021/acsomega.5c05926

PMCPMC12631311

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