Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration

EFEMP1 R345W is a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare blinding disease with clinical pathology similar to age-related macular degeneration (AMD). Aged Efemp1  R345W/R345W knock-in mice (Efemp1ki/ki) develop microscopic deposits on the ba...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human molecular genetics 2023-01, Vol.32 (2), p.204-217
Hauptverfasser:	Crowley, Maura A, Garland, Donita L, Sellner, Holger, Banks, Angela, Fan, Lin, Rejtar, Tomas, Buchanan, Natasha, Delgado, Omar, Xu, Yong Yao, Jose, Sandra, Adams, Christopher M, Mogi, Muneto, Wang, Karen, Bigelow, Chad E, Poor, Stephen, Anderson, Karen, Jaffee, Bruce D, Prasanna, Ganesh, Grosskreutz, Cynthia, Fernandez-Godino, Rosario, Pierce, Eric A, Dryja, Thaddeus P, Liao, Sha-Mei
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Complement Factor B - genetics Female Macular Degeneration - genetics Macular Degeneration - pathology Male Mice Optic Disk Drusen - pathology Original Retina - pathology Retinal Pigment Epithelium - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!