Latest Publications
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
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
Read MoreLiver-directed gene therapy for ornithine aminotransferase deficiency
Jan 18, 2023EMBO Mol Med
Read MoreDistinct changes in endosomal composition promote NLRP3 inflammasome activation
Nov 28, 2022Nature Immunology
Read MoreNew mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency
Nov 26, 2022Journal of Inherited Metabolic Disease
Read MoreTargeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma
Nov 08, 2022Cell Reports
Read MoremiR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases
Oct 05, 2022EMBO Molecular Medicine
Read MoreThe VersaLive platform enables microfluidic mammalian cell culture for versatile applications
Sep 29, 2022Communications Biology
Read MoreO-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
Sep 06, 2022Nature Communication
Read MoreFull-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
Aug 29, 2022Molecular Therapy
Read More