Latest Publications
A coordinated transcriptional program controls de novo Golgi biogenesis
Jun 09, 2026The EMBO Journal
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Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases
Apr 18, 2026Genetics in Medicine OPEN
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Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
Feb 05, 2026The American Journal of Human Genetics
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The future of gene therapy for inborn errors of metabolism: insights into liver-targeted innovations
Jan 16, 2026Expert Opinion on Biological Therapy
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TFEB coordinates autophagosome biogenesis and ribophagy during starvation via SQSTM1
Jan 01, 2026Science Advances
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Rescue of the CFTR chloride channel with nonsense mutations is markedly improved under inflammatory conditions
Dec 18, 2025EUROPEAN RESPIRATORY JOURNAL
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Copper in Human Health and Disease: Insights from Inherited Disorders
Nov 10, 2025Physiology
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The role of miRNAs in retinal physiology and in Inherited Retinal Disorders
Nov 10, 2025Physiology
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Hepatocyte delivery of miR-34b/c reduces hepatic stellate cell activation and improves liver fibrosis
Jun 09, 2025Molecular Therapy Nucleic Acids
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Autophagy, ER-phagy and ER dynamics during cell differentiation
Apr 11, 2025Journal of Molecular Biology
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Folliculin depletion results in liver cell damage and cholangiocarcinoma through MiT/TFE activation
Apr 06, 2025Cell Death & Differentation
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Cortico-striatal circuit mechanisms drive the effects of D1 dopamine agonists on memory capacity in mice through cAMP/PKA signalling
Mar 17, 2025nature communications
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Investigation of dynamic regulation of TFEB nuclear shuttling by microfluidics and quantitative modelling
Mar 15, 2025communications biology
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Impact of liver fibrosis on AAV-mediated gene transfer to mouse hepatocytes
Mar 10, 2025nature communications
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The apical mucus layer alters the pharmacological properties of the airway epitheliumy
Mar 06, 2025The Journal of Physiology
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Functional rescue of F508del-CFTR through revertant mutations introduced by CRISPR base editing
Mar 06, 2025Molecular Therapy
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Prion protein promotes copper toxicity in Wilson disease
Feb 08, 2025nature communications
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A role for mitochondria-ER crosstalk in amyotrophic lateral sclerosis 8 pathogenesis
Jan 27, 2025Life Science Alliance
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In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration
Jan 14, 2025Molecular Therapy Nucleic Acid
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Two FAM134B isoforms differentially regulate ER dynamics during myogenesis
Jan 06, 2025The EMBO Journal
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GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency
Jan 02, 2025Journal of Inherited Metabolic Disease
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Current and Emerging Issues in Adeno-Associated Virus Vector-Mediated Liver-Directed Gene Therapy
Dec 23, 2024Human gene Therapy
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Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
Dec 15, 2024EUROPEAN JOURNAL OF HUMAN GENETICS
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A Biomolecular Circuit for Automatic Gene Regulation in Mammalian Cells with CRISPR Technology
Dec 02, 2024ACS Synthetic Biology
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Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo
Jul 22, 2024EMBO reports
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Ragopathies and the rising influence of RagGTPases on human diseases
Jul 10, 2024Nature Communications
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