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Article

Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2023

Daida Kensuke, Funayama Manabu, Billingsley Kimberley J, Malik Laksh, Miano-Burkhardt Abigail, Leonard Hampton L, Makarious Mary B, Iwaki Hirotaka, Ding Jinhui, Gibbs J Raphael, Ishiguro Mayu, Yoshino Hiroyo, Ogaki Kotaro, Oyama Genko, Nishioka Kenya, Nonaka Risa, Akamatsu Wado, Blauwendraat Cornelis, Hattori Nobutaka

Abstract excerpt

BACKGROUND: Parkin RBR E3 ubiquitin-protein ligase (PRKN) mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E, which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are...

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Identifiers

PMID: 37926948
DOI: 10.1002/mds.29610
PMCID: PMC10843047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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