Article

Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease

2021-08-13

Abstract excerpt

<h4>ABSTRACT</h4> PRKN mutations are the most common recessive cause of Parkinson’s disease (PD) and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients (PRKN-PD) at the population scale, however, remains a challenge, as roughly half are copy number variants (CNVs) and many single nucleotide polymorphisms (SNPs) are of unclear significance. Additionally, the tr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d3f76428-35c2-52a4-8b15-959e41cd678c
DOI: 10.1101/2021.08.11.21261928

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s diseaseDOI 10.1101/2021.08.11.21261928Read

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.Semantic proximity Read

Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s diseaseSemantic proximity Read

Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.Semantic proximity Read

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.Semantic proximity Read

Assessment of private variants in <i>PRKN, PARK7</i> and <i>PINK1</i> in Parkinson’s diseaseSemantic proximity Read

Genome-wide association study of copy number variations in Parkinson’s diseaseSemantic proximity Read

Long-read sequencing resolves a complex structural variant in<i>PRKN</i>Parkinson’s diseaseSemantic proximity Read

Estimated genetics prevalence of early-onset Parkinson’s disease caused by<i>PRKN</i>mutationsSemantic proximity Read

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s diseaseSemantic proximity Read

ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC <i>PARK2</i> MUTATIONS AND PARKINSON’S RISKSemantic proximity Read

Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.Semantic proximity Read

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson’s Disease: a genetic screening studySemantic proximity Read