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Article

Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure.

Psychiatric genetics - 1 Apr 2017

Conceição Inês C, Rama Maria M, Oliveira Bárbara, Café Cátia, Almeida Joana, Mouga Susana, Duque Frederico, Oliveira Guiomar, Vicente Astrid M

Abstract excerpt

OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and...

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Identifiers

PMID: 27824727
DOI: 10.1097/YPG.0000000000000159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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