Latest Publications
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration
Jan 14, 2025Molecular Therapy Nucleic Acid
Read MoreTwo FAM134B isoforms differentially regulate ER dynamics during myogenesis
Jan 06, 2025The EMBO Journal
Read MoreCurrent and Emerging Issues in Adeno-Associated Virus Vector-Mediated Liver-Directed Gene Therapy
Dec 23, 2024Human gene Therapy
Read MoreVariants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
Dec 15, 2024EUROPEAN JOURNAL OF HUMAN GENETICS
Read MoreA Biomolecular Circuit for Automatic Gene Regulation in Mammalian Cells with CRISPR Technology
Dec 02, 2024ACS Synthetic Biology
Read MoreFam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo
Jul 22, 2024EMBO reports
Read MoreRagopathies and the rising influence of RagGTPases on human diseases
Jul 10, 2024Nature Communications
Read MoreTFEB controls syncytiotrophoblast formation and hormone production in placenta
Jul 04, 2024Cell Death & Differentiation
Read MoreSafe and effective liver-directed AAV-mediated homology-independent targeted integration in mouse models of inherited diseases
Jun 18, 2024Cell Reports Medicine
Read MoreLiver gene transfer for metabolite detoxification in inherited metabolic diseases
Jun 17, 2024FEBS Letter
Read MoreCombined 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
Read MoreInvestigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy
Mar 01, 2024Journial of Quantitative Cell Science - Citometry
Read MoreMembrane remodeling and trafficking piloted by SARS-CoV-2
Jan 22, 2024Trends In Cell Biology
Read MorePredicting drug response from single-cell expression profiles of tumours
Dec 01, 2023BMC Medicine
Read MoreLysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology
Nov 29, 2023Nature reviews
Read MoreTFEB and TFE3 control glucose homeostasis by regulating insulin gene expression
Sep 15, 2023The EMBO Journal
Read MoreDe novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Jul 13, 2023The America Journal of Human Genetics
Read MoreLoss of the batten disease protein CLN3 leadsto mis-trafficking of M6PR and defective autophagic-lysosomal reformation
Jul 03, 2023Nature Communications
Read MoreIncreased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin
Jul 01, 2023Molecular Therapy
Read MoreSynaptic mechanisms underlying onset and progression of memory deficits caused by hippocampal and midbrain synucleinopathy
Jun 16, 2023NPJ Parkinson's DIsease
Read MoreCellular population dynamics shape the route to human pluripotency
May 17, 2023Nature Communications
Read MoreRagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome
May 15, 2023Nature Communications
Read MoreEsrrb guides naive pluripotent cells through the formative transcriptional programme
Apr 27, 2023Nature Cell Biology
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