Latest Publications
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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Loss of the batten disease protein CLN3 leadsto mis-trafficking of M6PR and defective autophagic-lysosomal reformation
Jul 03, 2023Nature Communications
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Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin
Jul 01, 2023Molecular Therapy
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Synaptic mechanisms underlying onset and progression of memory deficits caused by hippocampal and midbrain synucleinopathy
Jun 16, 2023NPJ Parkinson's DIsease
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Cellular population dynamics shape the route to human pluripotency
May 17, 2023Nature Communications
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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome
May 15, 2023Nature Communications
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Esrrb guides naive pluripotent cells through the formative transcriptional programme
Apr 27, 2023Nature Cell Biology
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Liver-directed gene therapy for ornithine aminotransferase deficiency
Jan 18, 2023EMBO Mol Med
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Distinct changes in endosomal composition promote NLRP3 inflammasome activation
Nov 28, 2022Nature Immunology
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New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency
Nov 26, 2022Journal of Inherited Metabolic Disease
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