Margherita Protasoni

TL;DR: It is proposed that complex III is central for MRC maturation and SC formation, and the notion that SC biogenesis requires the pre‐formation of fully assembled individual complexes is challenged.

TL;DR: Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production as discussed by the authors.

TL;DR: In this paper , the function of the mitochondrial fission regulator 1-like protein (MTFR1L) was investigated, which is an uncharacterized protein that has been identified in phosphoproteomic screens as a potential AMPactivated protein kinase (AMPK) substrate.

TL;DR: Exome sequencing of a patient presenting with infantile-onset hepatopathy, renal tubular acidosis, developmental delay, short stature, leukoencephalopathy with minimal cerebellar involvement and multiple OXPHOS deficiencies revealed the presence of two novel pathogenic compound heterozygous variants in NUBPL.

TL;DR: Findings identify autosomal recessive TMEM63C variants as a cause of pure and complex HSP and add to the growing evidence of a fundamental pathomolecular role of perturbed mitochondrial-endoplasmic reticulum dynamics in motor neurone degenerative diseases.