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1.
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome.
J Biol Chem
; 295(28): 9725-9735, 2020 07 10.
Article
in English
| MEDLINE | ID: mdl-32482891
2.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29606302
3.
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.
PLoS Genet
; 13(4): e1006740, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28410364
4.
Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.
Dev Neurobiol
; 78(3): 311-330, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28986965
5.
BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.
J Cell Biol
; 216(7): 2131-2150, 2017 07 03.
Article
in English
| MEDLINE | ID: mdl-28576874
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