Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases
Keywords
Inherited retinal dystrophies
NR2E3
Photoreceptor differentiation
Retinal development
Single-cell RNA-seq
AbbreviationsAF2
activation-function-2 helix
ESCS
enhanced S-cone syndrome
GFS
Goldmann-Favre syndrome
IRD
inherited retinal dystrophy
MLKL
Mixed lineage kinase domain like pseudokinase
NR2E3
Nuclear receptor subfamily 2 group E member 3
NRL
Neural retina leucine zipper
OXPHOS
oxidative phosphorylation
PARP-1
poly(ADP-ribose) polymerase 1
PPCs
photoreceptor precursor cells
RPCs
retinal progenitor cells
RPE
retinal pigment epithelium cells
scRNA-seq
single-cell RNA-sequencing
VDAC
Voltage-dependent anion-selective channel
Data availability
Raw scRNAseq data is at ArrayExpress (E-MTAB-12183) and is publicly available from the date of publication. Further information for scRNASeq data to Juanma Vaquerizas ([email protected])
© 2024 The Author(s). Published by Elsevier Inc.
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