Biochemical diagnosis of congenital disorders of glycosylation

Raynor, Alexandre; Haouari, Walid; Lebredonchel, Elodie; Foulquier, François; Fenaille, François; Bruneel, Arnaud

doi:10.1016/bs.acc.2024.03.001

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2024

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Cited by 2 publications

References 123 publications

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Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Interdonato,

Himmelreich,

Garbade

et al. 2024

Molecular Genetics and Metabolism

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Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Interdonato,

Himmelreich,

Garbade

et al. 2024

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

Industrializing yeast as a drug repurposing platform for inherited metabolic diseases

Thevandavakkam,

Long,

Roel

et al. 2024

Preprint

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SummaryThe development of therapies for rare diseases, particularly inherited metabolic disorders (IMDs), faces significant challenges due to the high cost and lengthy timelines involved. This study presents a yeast-based platform for drug repurposing that capitalizes on the remarkable similarity between yeast and human cellular pathways. This platform enables rapid, cost-effective screening of potential therapeutic compounds for rare diseases, offering a quick turnaround compared to traditional drug development processes. Utilizing a TargetMol library of comprising ∼50% nutraceuticals, our pipeline accelerates translation of promising drug repurposing hits into patient observational studies in as little as 6 months. We demonstrate the efficacy of this platform through three case studies in the context of IMDs, showcasing its potential to uncover novel treatments and reduce the time and expense associated with bringing therapies to patients with rare diseases.

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Biochemical diagnosis of congenital disorders of glycosylation

Cited by 2 publications

References 123 publications

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation

Industrializing yeast as a drug repurposing platform for inherited metabolic diseases

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