Accès ouvert
2026
article
OpenAlex
Annika Zink, Dao‐Fu Dai, Annika Wittich, Marie‐Thérèse Henke et autres
Mitochondrial disease encompasses inherited disorders affecting mitochondrial function. A severe and untreatable form of mitochondrial disease is Leigh syndrome (LS), causing psychomotor regression and metabolic crises. To accelerate drug discovery for LS, we screen a library of 5,632 repurposable compounds in neural …
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Accès ouvert
2026
article
OpenAlex
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora et autres
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, …
it, es
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Accès ouvert
2026
article
OpenAlex
Marco Ronfini, Valentina Prando, Vittoria Di Mauro, Lolita Dokshokova et autres
Peripheral sympathetic neurodegeneration drives cardiac dysfunction in dominant optic atrophy, revealing a critical neuro-cardiac link. Optic atrophy factor-1 haploinsufficiency disrupts mitochondrial dynamics and neurotrophic signaling, causing targeted sympathetic denervation and arrhythmias. Restoring nerve growth factor transport and mitochondrial health in sympathetic neurons …
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Accès ouvert
2026
article
OpenAlex
Alessandra Maresca, Monica Moresco, Giulia Amore, Chiara La Morgia et autres
Mitochondrial diseases are genetic disorders caused either by nuclear or mitochondrial DNA (mtDNA) alterations and characterized by high genetic and phenotypic variability. The common mtDNA m.3243 A > G variant in the MT-TL1 gene leads to clinical manifestations ranging from the classical …
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2026
article
OpenAlex
Piervito Lopriore, Zeynep Ünlütürk, T Klopstock, Amel Karaa et autres
Background and ObjectivesTwinkle, encoded by the TWNK gene, is a mitochondrial DNA helicase that unwinds the double helix of DNA during replication, playing a pivotal role in mitochondrial function. Twinkle-related disorders encompass a variety of genetic disorders characterized by mitochondrial dysfunction. Although …
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Accès ouvert
2025
conference-abstract
OpenAlex
Maria Carelli, Erika Brattich, Igor Dienberger, Valerio Carelli et autres
The TRIGGER Horizon Europe project aims to enhance evidence-based connections between climate change and health threats and human well-being.As clearly emerging in the EXPOSOME paradigm on which the project is rooted, the interactions among climate, health and ecosystems are multiple and complex, …
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