Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.

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Title: Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.
Authors: Parisi SR; Cell Screening Laboratory, UCD School of Biology & Environmental Science, University College Dublin, Dublin 4, Ireland., Harte DZ; Cell Screening Laboratory, UCD School of Biology & Environmental Science, University College Dublin, Dublin 4, Ireland., Simpson JC; Cell Screening Laboratory, UCD School of Biology & Environmental Science, University College Dublin, Dublin 4, Ireland. Electronic address: jeremy.simpson@ucd.ie.
Source: European journal of cell biology [Eur J Cell Biol] 2026 Mar; Vol. 105 (1), pp. 151528. Date of Electronic Publication: 2025 Dec 24.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Germany NLM ID: 7906240 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-1298 (Electronic) Linking ISSN: 01719335 NLM ISO Abbreviation: Eur J Cell Biol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1618-1298
DOI:10.1016/j.ejcb.2025.151528