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

Clausen, Lene ; Okarmus, Justyna ; Voutsinos, Vasileios ; Meyer, Morten ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.223-223, Article 223 [Periódico revisado por pares]

Cham: Springer International Publishing

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PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variants
Autor: Clausen, Lene ; Okarmus, Justyna ; Voutsinos, Vasileios ; Meyer, Morten ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus
Assuntos: Animals ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Computational neuroscience ; Control systems ; Dopamine receptors ; Drug development ; Humans ; Life Sciences ; Mitochondria - genetics ; Mitochondria - metabolism ; Mitochondria - pathology ; Mitophagy ; Mitophagy - genetics ; Molecular modelling ; Movement disorders ; Neurodegenerative diseases ; Parkin protein ; Parkinson Disease - genetics ; Parkinson Disease - metabolism ; Parkinson Disease - pathology ; Parkinson's disease ; Proteins ; Quality control ; Review ; Software ; Substantia nigra ; Ubiquitin-protein ligase ; Ubiquitin-Protein Ligases - genetics ; Ubiquitin-Protein Ligases - metabolism ; Ubiquitination ; Ubiquitination - genetics
É parte de: Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.223-223, Article 223
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
Descrição: 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 encodes Parkin, an E3 ubiquitin-protein ligase important for protein ubiquitination and mitophagy of damaged mitochondria. Accordingly, Parkin plays a central role in mitochondrial quality control but is itself also subject to a strict protein quality control system that rapidly eliminates certain disease-linked Parkin variants. Here, we summarize the cellular and molecular functions of Parkin, highlighting the various mechanisms by which PRKN gene variants result in loss-of-function. We emphasize the importance of high-throughput assays and computational tools for the clinical classification of PRKN gene variants and how detailed insights into the pathogenic mechanisms of PRKN gene variants may impact the development of personalized therapeutics.
Editor: Cham: Springer International Publishing
Idioma: Inglês

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

Clausen, Lene ; Okarmus, Justyna ; Voutsinos, Vasileios ; Meyer, Morten ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus

Cham: Springer International Publishing

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