Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.P158del1
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PARK7

NM_007262.5:p.P158del1

Associated Papers

Pervasive glycative stress links metabolic imbalance and muscle atrophy in early-onset Parkinson's disease.

de Mello NP et al.

Molecular Metabolism, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Fujita M et al.

Frontiers in Neuroscience, 2024

38817911 (PubMed )
Supplement: Table_1.DOCX

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Defects in PINK-PRKN-PARK7/DJ-1-dependent mitophagy and autosomal recessive Parkinson disease.

Imberechts D et al.

Autophagy, 2023

DJ-1 is an essential downstream mediator in PINK1/parkin-dependent mitophagy.

Imberechts D et al.

Brain : a Journal of Neurology, 2022

Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years.

Delva A et al.

Movement Disorders Clinical Practice, 2021

DJ-1 in Parkinson's Disease: Clinical Insights and Therapeutic Perspectives.

Repici M et al.

Journal of Clinical Medicine, 2019

Recent findings on the physiological function of DJ-1: Beyond Parkinson's disease.

Biosa A et al.

Neurobiology of Disease, 2017

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.

Ryan BJ et al.

Trends in Biochemical Sciences, 2015

DJ-1 interactions with α-synuclein attenuate aggregation and cellular toxicity in models of Parkinson's disease.

Zondler L et al.

Cell Death & Disease, 2014

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders.

Kahle PJ et al.

Free Radical Biology & Medicine, 2009

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Macedo MG et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."