Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported to be associated with a broad spectrum of phenotypes but all affected individuals display muscular pathology. Identifying additional variants...

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Detalles Bibliográficos
Autores principales: Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773699/
https://www.ncbi.nlm.nih.gov/pubmed/31575891
http://dx.doi.org/10.1038/s41598-019-50415-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773699/
https://www.ncbi.nlm.nih.gov/pubmed/31575891
http://dx.doi.org/10.1038/s41598-019-50415-6

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