Häberle, Johannes

In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels

Rothgangl, T., Dennis, M. K., Lin, P. J. C., Oka, R., Witzigmann, D., Villiger, L., Qi, W., Hruzova, M., Kissling, L., Lenggenhager, D., et al. (2021) · Nature Biotechnology

CRISPR and Genetic EngineeringRNA Interference and Gene Delivery

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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Truong, B., Allegri, G., Liu, X.-B., Burke, K. E., Zhu, X., Cederbaum, S. D., Häberle, J., Martini, P. G. V., & Lipshutz, G. S. (2019) · Proceedings of the National Academy of Sciences

RNA Interference and Gene DeliveryLysosomal Storage Disorders Research

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Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia

Soria, L. R., Allegri, G., Melck, D., Pastore, N., Annunziata, P., Paris, D., Polishchuk, E., Nusco, E., Thöny, B., Motta, A., et al. (2018) · Proceedings of the National Academy of Sciences

Autophagy in Disease and TherapyMetabolism and Genetic Disorders

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Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, R., Bozorgmehr, B., Kariminejad, M. H., Rohrbach, M., Hausser, I., Baumer, A., Baumgartner, M., Giunta, C., Kariminejad, A., & Häberle, J. (2011) · Journal of Inherited Metabolic Disease

Connective tissue disorders researchGenomics and Rare Diseases

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Maple syrup urine disease: clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the republic of Ireland

O'Reilly, D., Crushell, E., Hughes, J., Ryan, S., Rogers, Y., Borovickova, I., Mayne, P., Riordan, M., Awan, A., Carson, K., et al. (2021) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

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