Nicolas GOUDIN | Institut Imagine

Presentation

Nicolas GOUDIN

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Contact :

01 40 61 55 48

nicolas.goudin@inserm.fr

About

Scientific Publications

Publications

2026

A cilia-dependent inflammatory programme links bacterial detection to kidney ..., openRxiv
2025

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid mo..., JCI Insight
2025

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with ma..., Blood Cancer J
2025

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun
2025

Kinesin-1 coordinates cross-talk between microtubule and actin cytoskeletons ..., Sci Adv
2025

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis., Kidney Int Rep
2025

A primary cilia–autophagy axis in hippocampal neurons is essential to maintai..., Springer Science and Business Media LLC
2024

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun
2023

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv
2023

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?, Biomed Pharmacother
2023

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood
2022

Neuropilin-1 cooperates with PD-1 in CD8 T cells predicting outcomes in melan..., iScience
2022

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp
2021

Compromised mitochondrial quality control triggers lipin1-related rhabdomyoly..., Cell Rep Med
2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet
2020

Kinesin-1 regulates antigen cross-presentation through the scission of tubula..., Nat Commun
2019

Severe influenza pneumonitis in children with inherited TLR3 deficiency., J Exp Med
2018

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency., FASEB J
2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet
2018

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability., Arterioscler Thromb Vasc Biol
2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet
2017

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet
2017

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 traffick..., Hum Mol Genet
2017

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet
2016

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-depen..., J Cell Biol
2015

LYST controls the biogenesis of the endosomal compartment required for secret..., Traffic
2014

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest
2012

Terminal transport of lytic granules to the immune synapse is mediated by the..., Blood
2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet

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Presentation

About

Scientific Publications

A cilia-dependent inflammatory programme links bacterial detection to kidney ..., openRxiv

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid mo..., JCI Insight

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with ma..., Blood Cancer J

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun

Kinesin-1 coordinates cross-talk between microtubule and actin cytoskeletons ..., Sci Adv

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis., Kidney Int Rep

A primary cilia–autophagy axis in hippocampal neurons is essential to maintai..., Springer Science and Business Media LLC

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?, Biomed Pharmacother

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood

Neuropilin-1 cooperates with PD-1 in CD8 T cells predicting outcomes in melan..., iScience

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary..., J Vis Exp

Compromised mitochondrial quality control triggers lipin1-related rhabdomyoly..., Cell Rep Med

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet

Kinesin-1 regulates antigen cross-presentation through the scission of tubula..., Nat Commun

Severe influenza pneumonitis in children with inherited TLR3 deficiency., J Exp Med

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency., FASEB J

Basal exon skipping and nonsense-associated altered splicing allows bypassing..., Hum Mol Genet

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability., Arterioscler Thromb Vasc Biol

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 traffick..., Hum Mol Genet

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-depen..., J Cell Biol

LYST controls the biogenesis of the endosomal compartment required for secret..., Traffic

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest

Terminal transport of lytic granules to the immune synapse is mediated by the..., Blood

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet