Emanuela Bottani Lab

FUELING THE FUTURE OF RARE DISEASE CARE

We are a university-based laboratory dedicated to preclinical research on rare genetic neuro-metabolic diseases.
Our work focuses on mitochondrial dysfunction, using state-of-the-art methodologies and innovative preclinical models to unravel the mechanisms underlying disease and to develop new therapeutic strategies.

We collaborate with patient associations and the scientific community to guide therapeutic developments toward concrete clinical needs and to promote the translation of research findings from the laboratory to clinical practice.

Who We Are

OUR LABORATORY

Our laboratory was established in 2021 and has since grown progressively, becoming a structured and fully operational research unit dedicated to the study of mitochondrial dysfunction since 2025. We integrate expertise in genetics, molecular biology, and biochemistry, with experience in the use of genetically modified animal models and preclinical pharmacology approaches.
We investigate the mechanisms underlying rare neuro-metabolic diseases through advanced methodologies and a multidisciplinary approach, with the goal of identifying novel therapeutic targets and strategies. 

Mission

WHAT WE DO

Research activities

Discover the research activities of our laboratory.

Publications

Discover our laboratory’s publications.

Projects

Discover our laboratory’s current and past projects.

MitoGen Lab

FUELING THE FUTURE OF RARE DISEASE CARE

News

Last news and updates

Our study on sildenafil for Leigh syndrome published in Cell

We have published in Cell an international multicenter study identifying sildenafil as a potential treatment for Leigh syndrome, a severe mitochondrial disorder currently lacking effective therapies. Through a large-scale screening in patient-derived neuronal cells, we identified PDE5 inhibitors and selected sildenafil based on its safety profile. The treatment showed positive effects in cellular models, brain…

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New study in Pharmacological Research: the role of the PGC-1α pathway in brain development

We have published in Pharmacological Research a new study exploring the role of thyroid hormones in brain development. Using brain organoids, we showed that T3 deficiency impairs neuronal maturation and cellular activity. Our results identify the transcriptional coactivator PGC-1α as a key mediator of these processes. Pharmacological activation of the PGC-1α pathway, using Nicotinamide Riboside…

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Mitochondria and Neurodevelopment: New Results on a Pharmacological Therapy for Disorders Associated with Central Hypothyroidism Presented at the WMS Congress

Dr. Bottani took part in the International Congress of the World Mitochondrial Society (WMS), presenting a talk entitled  “Targeting mitochondrial bioenergetics to sustain neurodevelopment under thyroid hormone deficiency.” In her presentation, Dr. Bottani shared the results of an ongoing research project that has helped to clarify the link between thyroid hormone T3, mitochondrial activation, and…

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Greetings and best wishes to Donald Bajia

After one year of intense collaboration, the time has come for our PhD student, Donald Bajia, to return to Poznań University of Medical Sciences, where he will complete his doctoral thesis and soon defend his PhD. While we are truly sad to see him leave our research team, we are grateful for his contributions and…

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The Team Grows with New Talents and Recognitions

We are pleased to announce two important updates for Dr. Bottani’s research group, both supported by the Italian Science Fund (FIS2). Enrica Cappellozza will continue as part of the team for the 2025–2028 period, following the award of a research contract. This achievement is a well-deserved recognition of her talent and the quality of her…

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Our Laboratory at the EMBO Workshop “Mitochondria in the Nervous System”

Dr. Enrica Cappellozza participated in the EMBO Workshop “Mitochondria in the Nervous System”, an international meeting that focused on the multiple roles of mitochondria in neurons and glial cells, as well as their contributions to brain development and neuronal plasticity. During the intense days of talks and discussions, Dr. Cappellozza presented the results of her…

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Research activities

EXPLORE OUR RESEARCH ACTIVITIES

From the biological foundations to therapeutic perspectives, our research brings together innovation, collaboration, and scientific rigor.

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Privacy Policy

PRIVACY POLICY

Pursuant to Art. 13 of EU Regulation 2016/679 – GDPR

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Last update: July 2025