Latest Publications
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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Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma
Nov 08, 2022Cell Reports
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miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases
Oct 05, 2022EMBO Molecular Medicine
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The VersaLive platform enables microfluidic mammalian cell culture for versatile applications
Sep 29, 2022Communications Biology
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O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
Sep 06, 2022Nature Communication
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Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
Aug 29, 2022Molecular Therapy
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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Aug 07, 2022EMBO Molecular Medicine
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Thalamo-hippocampal pathway regulates incidental memory capacity in mice
Aug 03, 2022Nature Communications
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TFEBexplorer: An integrated tool to study genes regulated by the stress-responsive Transcription Factor EB
Jul 21, 2022Autophagy Reports
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Liver gene therapy with intein-mediated F8 trans-splicing corrects mouse haemophilia A
Jun 08, 2022EMBO Molecular Medicine
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Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
Jun 06, 2022NEJM Evidence
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The role of NSP6 in the biogenesis of the SARS-CoV-2 replication organelle
May 13, 2022Nature
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Therapeutic homology-independent targeted integration in retina and liver
Apr 12, 2022Nature Communications
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Phosphorylation of FAM134C by CK2 controls starvation-induced ER-phagy
Apr 12, 2022Science Advances
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A single-cell analysis of breast cancer cell lines to study tumour heterogeneity and drug response
Mar 31, 2022Nature Communications
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