High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
D Ebrahimi-Fakhari,
JE Alecu,
B Brechmann,
M Ziegler,
K Eberhardt,
H Jumo,
A D'Amore,
P Habibzadeh,
MA Faghihi,
JL De Bleecker,
S Vuillaumier-Barrot,
S Auvin,
FM Santorelli,
S Neuser,
B Popp,
E Yang,
L Barrett,
AK Davies,
A Saffari,
J Hirst,
M Sahin
Jan 06, 2022
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate...