Wird geladen …
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...
Hauptverfasser: | , , , , , , , , |
---|---|
Format: | Online Artikel Text |
Sprache: | English |
Veröffentlicht: |
Public Library of Science
2021
|
Schlagworte: | |
Online Zugang: | 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 |