New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions

TMEM165 is a Golgi protein playing a crucial role in Mn(2+) transport, and whose mutations in patients are known to cause Congenital Disorders of Glycosylation. Some of those mutations affect the highly-conserved consensus motifs E-φ-G-D-[KR]-[TS] characterizing the CaCA2/UPF0016 family, presumably...

Descripción completa

Detalles Bibliográficos
Autores principales: Legrand, Dominique, Herbaut, Mélissandre, Durin, Zoé, Brysbaert, Guillaume, Bardor, Muriel, Lensink, Marc F., Foulquier, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319644/
https://www.ncbi.nlm.nih.gov/pubmed/37416081
http://dx.doi.org/10.1016/j.csbj.2023.06.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319644/
https://www.ncbi.nlm.nih.gov/pubmed/37416081
http://dx.doi.org/10.1016/j.csbj.2023.06.015

Ejemplares similares