Sabine M. Hölter

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

Celine Saad, Sabine Jung-Klawitter, Bianca Dimitrov, Juan Antonio Aguilar-Pimentel et autres

Glutaric aciduria type 1 is caused by inherited deficiency of glutaryl-CoA dehydrogenase and subsequent accumulation of neurotoxic metabolites. Clinically, the disease is characterized by striatal damage and dystonic movement disorder in untreated infants. Despite newborn screening and pre-symptomatic therapy start, about one-third …

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Critical uncertainties in preclinical research: Navigating trust, technology, and ethics

Indrek Heinla, Vootele Võikar, Hilary Gates, Rasneer Sonia Bains et autres

Animal use in preclinical research is facing growing scientific, ethical and political scrutiny in Europe. Researchers are increasingly required to justify in vivo studies and are urged to replace them with New Approach Methodologies (NAMs), even where these are not yet fit …

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Home Cage Monitoring in Rodents: A Global Effort

Maša Čater, Sabine M. Hölter

All the great potential of home cage monitoring (HCM) will remain unrealised if the knowledge about its value is not communicated and disseminated efficiently via appropriate channels to the relevant target audiences. This chapter explains why effective communication and widespread dissemination are …

Sharing the Knowledge: Communication and Dissemination

Maša Čater, Sabine M. Hölter

Abstract All the great potential of home cage monitoring (HCM) will remain unrealised if the knowledge about its value is not communicated and disseminated efficiently via appropriate channels to the relevant target audiences. This chapter explains why effective communication and widespread dissemination …

Outcome strategies for clinical trials in Neuropaediatric rare diseases

Maria T. Acosta, José Ángel Aibar, Celso Arango, Estibaliz Arce Cirauqui et autres

Neuropaediatric Rare Diseases (NRDs) impose a profound and multidimensional burden on patients, families, and healthcare systems. Persistently low clinical trial success rates reflect an unmet methodological need as much as a therapeutic one. A fundamental bottleneck is the absence of fit-for-purpose clinical …

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Loss of the ferroptosis suppressor VKORC1L1 drives compensatory metabolic rewiring that promotes hepatic steatosis

Ann-Kathrin Stahl, Noelia Fradejas‐Villar, Francesco Forin, Hans Dieter Nischalke et autres

A fin-loop-like structure in GPX4 underlies neuroprotection from ferroptosis

Svenja Lorenz, Adam Wahida, Mark J. Bostock, Tobias Seibt et autres

Ferroptosis, driven by uncontrolled peroxidation of membrane phospholipids, is distinct from other cell death modalities because it lacks an initiating signal and is surveilled by endogenous antioxidant defenses. Glutathione peroxidase 4 (GPX4) is the guardian of ferroptosis, although its membrane-protective function remains …

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Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

Debjani Bhattacharya, Patricia da Silva‐Buttkus, Karsten Nalbach, Lizhen Cheng et autres

Mutations in the gene encoding Tectonic β-propeller repeat-containing repeat protein 2 (TECPR2) cause hereditary sensory and autonomic neuropathy subtype 9 (HSAN9) which is a fatal neurodevelopmental and neurodegenerative disorder involving the sensory and peripheral nervous system. TECPR2 is ubiquitously expressed and linked …

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Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases

Maria T. Acosta, Sílvia Zaragoza Domingo, Celso Arango, Kim I. Bishop et autres

During 2023, the leads of the ECNP TWG focused on Clinical Outcomes in Early-Trials in Neurosciences scheduled two brainstorming sessions to allow a deep discussion about challenges facing neurosciences drug development in neuropediatric rare diseases. Sessions were led by Dr Maria T. …

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Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases

Maria T. Acosta, Silvia Zaragoza Domingo, Celso Arango, Kim I. Bishop et autres

During 2023, the leads of the ECNP TWG focused on Clinical Outcomes in Early-Trials in Neurosciences scheduled two brainstorming sessions to allow a deep discussion about challenges facing neurosciences drug development in neuropediatric rare diseases. Sessions were led by Dr Maria T. …

IMPC impact on preclinical mouse models

Sabine M. Hölter, Pilar Cacheiro, Damian Smedley, K. C. Kent Lloyd

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Muscarinic receptor agonists and positive allosteric modulators in animal models of psychosis: protocol for a systematic review and meta-analysis

Spyridon Siafis, Nobuyuki Nomura, Johannes Schneider‐Thoma, Irene Bighelli et autres

Background: Muscarinic receptor agonism and positive allosteric modulation is a promising mechanism of action for treating psychosis, not present in most D2R-blocking antipsychotics. Xanomeline, an M1/M4-preferring agonist, has shown efficacy in late-stage clinical trials, with more compounds being investigated. Therefore, we aim …

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