SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Neringa JurkuteCostin LeuHans-Martin PogodaGavin ArnoAnthony G RobsonGudrun NürnbergJanine AltmüllerHolger ThieleSusanne MotamenyMohammad Reza ToliatKate PowellWolfgang HöhneMichel MichaelidesAndrew R WebsterAnthony T MooreMatthias HammerschmidtPeter NürnbergPatrick Yu-Wai-ManMarcela Votruba

Published in: Annals of neurology (2019)

SSBP1 is an essential protein for mitochondrial DNA replication and maintenance. Our data have established pathogenic variants in SSBP1 as a cause of ADOA and variable retinal degeneration. ANN NEUROL 2019;86:368-383.

Keyphrases

optical coherence tomography
optic nerve
diabetic retinopathy
oxidative stress
electronic health record
copy number
big data
protein protein
neural network
amino acid
small molecule
machine learning
data analysis