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Open access Oct 2026

Impaired Mitochondrial Translation and Bioenergetic Dysfunction Associated with the MT-RNR1 m.1014A>G Variant

Pathogenic variants in MT-RNR1 are classically associated with aminoglycoside-induced sensorineural hearing loss through disruption of the mitochondrial 12S rRNA decoding center. Their contribution to pediatric neurological disease remains poorly defined. We identified a novel homoplasmic MT-RNR1 variant, m.1014A>G, in...

Irene Marrone, Blendi Ura, F. Celsi et al. · 0 citations
Open access Aug 2026

Peripheral Mononuclear Cells Metabolomics in Obstructive Sleep Apnea Syndrome (OSAS): An Exploratory Pilot Study of Immunometabolic Signatures

Obstructive Sleep Apnea Syndrome (OSAS) is associated with systemic inflammation and immune dysfunction, yet the specific metabolic alterations within immune cells remain poorly understood. In this exploratory study, we characterized the metabolome of peripheral mononuclear cells (PMNCs) from patients with OSAS and hea...

Nour Balasan, Michela Zorzi, B. Ura et al. · 0 citations

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