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Article

Usage of an Alternative Translation Start Site in<i>PRKN</i>mutation carriers: Key to Later-Onset Parkinson’s Disease and a Novel Therapeutic Target

2025-05-08

Abstract excerpt

Biallelic pathogenic variants of PRKN, encoding the Parkin RBR E3 ubiquitin protein ligase, are the most common known cause of autosomal recessive Parkinson’s disease (PD). PARK- PRKN is characterized by an early median age at onset (AAO) of 31 years with a wide range (3-81 years). When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 ( PRKN delEx2 ) from the MDSGene database, the...

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Literature Corpus work
2a98d6c4-cdf1-5d87-92f4-bbcc1ed2ef9e
DOI
10.1101/2025.05.07.25326886
Open publication

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Usage of an Alternative Translation Start Site in<i>PRKN</i>mutation carriers: Key to Later-Onset Parkinson’s Disease and a Novel Therapeutic TargetDOI 10.1101/2025.05.07.25326886
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