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Article

Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.

Neurochemical research - 1 Dec 2008

Piccoli Claudia, Sardanelli Annamaria, Scrima Rosella, Ripoli Maria, Quarato Giovanni, D'Aprile Annamaria, Bellomo Francesco, Scacco Salvatore, De Michele Giuseppe, Filla Alessandro, Iuso Arcangela, Boffoli Domenico, Capitanio Nazzareno, Papa Sergio

Abstract excerpt

In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. When compared with normal fibroblasts, the patient's fibroblast mitochondria exhibited a lower respiratory activity and a decreased respiratory control ratio with cellular ATP supply relying...

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Identifiers

PMID: 18473170
DOI: 10.1007/s11064-008-9729-2

Genes

PINK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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