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Article

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

21 Sept 2021

Abstract excerpt

Abstract 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 complex. While the diagnosis of adaptor protein complex 4-associated hereditary spastic paraplegia relies on molecular testing, the interpretation of novel missense variants remains challenging. Here, we...

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Autophagy in Disease and Therapy
Cellular transport and secretion
Hereditary Neurological Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34729478
DOI: 10.1093/braincomms/fcab221

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