Author

María J. Barrero

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Open access Aug 2026

Z-AAT impairs organelle homeostasis and reduces adaptive response to lipids in alpha-1 antitrypsin deficiency models

Z-AAT accumulation disrupts hepatic lipid processing and impaired mitochondrial and peroxisomal homeostasis, producing diminished metabolic flexibility likely contributing to AATD-associated liver disease.

Sara Gil-Martín, N. Matamala, Otto Hagen-Doval et al. · bioRxiv · 0 citations

Open access Jun 2026

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report

A role for EHMT2 in an autosomal recessive neurodevelopmental disorder is supported and anticipatory guidance for the patient’s family is allowed.

D. Rots, B. C. D. de Oliveira, L. M. L. Carvalho et al. · Frontiers in Genetics · 0 citations