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Article

Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.

EBioMedicine - 1 Nov 2020

Sambri Irene, Massa Filomena, Gullo Francesca, Meneghini Simone, Cassina Laura, Carraro Michela, Dina Giorgia, Quattrini Angelo, Patanella Lorenzo, Carissimo Annamaria, Iuliano Antonella, Santorelli Filippo, Codazzi Franca, Grohovaz Fabio, Bernardi Paolo, Becchetti Andrea, Casari Giorgio

Abstract excerpt

BACKGROUND: Mutations of the mitochondrial protein paraplegin cause hereditary spastic paraplegia type 7 (SPG7), a so-far untreatable degenerative disease of the upper motoneuron with still undefined pathomechanism. The intermittent mitochondrial permeability transition pore (mPTP) opening, called flickering, is an essential process that operates to maintain mitochondrial homeostasis by reducing intra-matrix Ca2+...

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Share to ATPases Associated with Diverse Cellular Activities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Potential, Mitochondrial

Share to Metalloendopeptidases

Share to Sirtuin 3

Share to Spastic Paraplegia, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 33045469
DOI: 10.1016/j.ebiom.2020.103050
PMCID: PMC7553352

Genes

SPG7

Provenance

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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