Associated Papers
SCAMP5 regulates AP-4-dependent sorting and trafficking of ATG9A for presynaptic autophagy via PI4KB/PI4KIIIβ recruitment and PtdInsP4 production at the TGN.
Ryu SH et al.
Autophagy, 2025
Secretory carrier-associated membrane protein 5 regulates cell-surface targeting of T-type calcium channels.
Mustafá ER et al.
Channels (austin, Tex.), 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM4_ESM.xlsx › Supplementary_Table_3
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
Hubert L et al.
Journal of Medical Genetics, 2020
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
Jiao X et al.
Frontiers in Pharmacology, 2020
Select a paper to view details