Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variants

20 May 2024

Abstract excerpt

Parkinson's disease (PD) is a common and incurable neurodegenerative disorder that arises from the loss of dopaminergic neurons in the substantia nigra and is mainly characterized by progressive loss of motor function. Monogenic familial PD is associated with highly penetrant variants in specific genes, notably the PRKN gene, where homozygous or compound heterozygous loss-of-function variants predominate. PRKN...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Neurodegenerative Diseases
Share to Genetics and Neurodevelopmental Disorders
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38767677
DOI: 10.1007/s00018-024-05262-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variantsPMID 38767677Read ↗

Comprehensive Variant Effect Map of Parkin-Mediated Mitophagy in Parkinson’s DiseaseSemantic proximity Read ↗

Systematic Functional Analysis of PINK1 and PRKN Coding VariantsSemantic proximity Read ↗

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s diseaseSemantic proximity Read ↗

A Functional Genetic Atlas of Parkin Resolves Variants of Uncertain Significance and Predicts Parkinson’s Disease Age at OnsetSemantic proximity Read ↗

The Landscape of <i>Parkin</i> Variants Reveals Pathogenic Mechanisms and Therapeutic Targets in Parkinson’s DiseaseSemantic proximity Read ↗

The role of parkin in familial and sporadic Parkinson's disease.Semantic proximity Read ↗

Parkin-linked Parkinson's disease: From clinical insights to pathogenic mechanisms and novel therapeutic approaches.Semantic proximity Read ↗

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson’s Disease Pathobiology?Semantic proximity Read ↗

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.Semantic proximity Read ↗

Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.Semantic proximity Read ↗

Parkin, an E3 Ubiquitin Ligase, Plays an Essential Role in Mitochondrial Quality Control in Parkinson's Disease.Semantic proximity Read ↗

Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and ParkinSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.