Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Spagnoli C et al.
International Journal of Molecular Sciences, 2023
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
Liang Y et al.
Frontiers in Neurology, 2023
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Edelman WC et al.
Parkinsonism & Related Disorders, 2022
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T et al.
The Journal of Clinical Investigation, 2019
Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.
Colacurcio DJ et al.
Ageing Research Reviews, 2016
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
Gupta HV et al.
Parkinsonism & Related Disorders, 2015
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O et al.
Human Molecular Genetics, 2013
The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis.
Kinouchi K et al.
Plos One, 2013
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