Latest Publications
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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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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TFEB controls syncytiotrophoblast formation and hormone production in placenta
Jul 04, 2024Cell Death & Differentiation
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Safe and effective liver-directed AAV-mediated homology-independent targeted integration in mouse models of inherited diseases
Jun 18, 2024Cell Reports Medicine
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Liver gene transfer for metabolite detoxification in inherited metabolic diseases
Jun 17, 2024FEBS Letter
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Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Mar 07, 2024Journal of Human Genetics
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Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy
Mar 01, 2024Journial of Quantitative Cell Science - Citometry
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Membrane remodeling and trafficking piloted by SARS-CoV-2
Jan 22, 2024Trends In Cell Biology
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Predicting drug response from single-cell expression profiles of tumours
Dec 01, 2023BMC Medicine
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Lysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology
Nov 29, 2023Nature reviews
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TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression
Sep 15, 2023The EMBO Journal
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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Jul 13, 2023The America Journal of Human Genetics
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