Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

The inability to maintain a strictly regulated endo(lyso)somal acidic pH through the proton-pumping action of the vacuolar-ATPases (v-ATPases) has been associated with various human diseases including heritable connective tissue disorders. Autosomal recessive (AR) cutis laxa (CL) type 2C syndrome is...

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Detalles Bibliográficos
Autores principales: Pottie, Lore, Van Gool, Wouter, Vanhooydonck, Michiel, Hanisch, Franz-Georg, Goeminne, Geert, Rajkovic, Andreja, Coucke, Paul, Sips, Patrick, Callewaert, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244898/
https://www.ncbi.nlm.nih.gov/pubmed/34143769
http://dx.doi.org/10.1371/journal.pgen.1009603

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244898/
https://www.ncbi.nlm.nih.gov/pubmed/34143769
http://dx.doi.org/10.1371/journal.pgen.1009603

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