TY  - JOUR
AU  - Caporali, Leonardo
AU  - Magri, Stefania
AU  - Legati, Andrea
AU  - Del Dotto, Valentina
AU  - Tagliavini, Francesca
AU  - Balistreri, Francesca
AU  - Nasca, Alessia
AU  - La Morgia, Chiara
AU  - Carbonelli, Michele
AU  - Valentino, Maria L.
AU  - Lamantea, Eleonora
AU  - Baratta, Silvia
AU  - Schöls, Ludger
AU  - Schüle, Rebecca
AU  - Barboni, Piero
AU  - Cascavilla, Maria L.
AU  - Maresca, Alessandra
AU  - Capristo, Mariantonietta
AU  - Ardissone, Anna
AU  - Pareyson, Davide
AU  - Cammarata, Gabriella
AU  - Melzi, Lisa
AU  - Zeviani, Massimo
AU  - Peverelli, Lorenzo
AU  - Lamperti, Costanza
AU  - Marzoli, Stefania B.
AU  - Fang, Mingyan
AU  - Synofzik, Matthis
AU  - Ghezzi, Daniele
AU  - Carelli, Valerio
AU  - Taroni, Franco
TI  - ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
JO  - Annals of neurology
VL  - 88
IS  - 1
SN  - 1531-8249
CY  - Hoboken, NJ
PB  - Wiley-Blackwell
M1  - DZNE-2020-01239
SP  - 18 - 32
PY  - 2020
AB  - ObjectiveDominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70
KW  - ATP-Dependent Proteases: genetics
KW  - ATPases Associated with Diverse Cellular Activities: genetics
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Female
KW  - GTP Phosphohydrolases: genetics
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Optic Atrophy: genetics
KW  - Optic Nerve Diseases: genetics
KW  - Pedigree
KW  - Exome Sequencing
KW  - Young Adult
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC7383914
C6  - pmid:32219868
DO  - DOI:10.1002/ana.25723
UR  - https://pub.dzne.de/record/151660
ER  -