Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson’s Disease

: Our findings support a potential contribution of rare germline variants affecting mitochondrial metabolism to the susceptibility in early-onset and familial PD.

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Publication Details

Journal
Genes
Published
2026-04-17
DOI
https://doi.org/10.3390/genes17040472
Primary Topic
Mitochondrial Function and Pathology
Type
article
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article

Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson’s Disease

Borut Peterlin, Marina Svetel, Martin Rakuša, Dejan Georgiev et al.
Genes
Mitochondrial Function and Pathology
article

Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson’s Disease

Borut Peterlin, Marina Svetel, Martin Rakuša, Dejan Georgiev, Nataša Teran, Полина Цыганкова, Ivana V. Novaković, Zvezdan Pirtošek, Vesna M. van Midden, Gaber Bergant, Marija Branković, Valentino Rački, Eliša Papić, Igor Petrović, Vladimira Vuletić, Natasa Dragasević Misković, Aleš Maver, Dorian Laslo
article en

Abstract

: Our findings support a potential contribution of rare germline variants affecting mitochondrial metabolism to the susceptibility in early-onset and familial PD.

GenesVol. 17(4)
University of Ljubljana (SI), University of Rijeka (HR), Ljubljana University Medical Centre (SI), University of Belgrade (RS), Centar za Promociju Nauke (RS), University Clinical Centre Maribor (SI), University Children's Hospital, Belgrade (RS)
Good health and well-being
Openalex Percentile: Top 23%
Mitochondrial Function and Pathology
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Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson’s Disease — Borut Peterlin, Marina Svetel, et al. · Genes (2026) | TGRS Research Map | TGRS