List of works - Julien Fauré

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

scientific article published on 11 December 2017

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

scientific article published on 8 April 2014

ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer.

scientific article published on 8 December 2017

ARF1 regulates Nef-induced CD4 degradation.

scientific article published in June 2004

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

scientific article

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

scientific article published on 30 May 2017

Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].

scientific article

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

scientific article published on 19 September 2018

Excitation-Contraction Coupling Alterations in Myopathies

scientific article

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

scientific article published on 13 November 2015

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

scientific article published on July 2013

Exosomes are released by cultured cortical neurones.

scientific article published on 30 January 2006

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

scientific article published on 28 October 2016

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

scientific article

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

scientific article

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

scientific article published on 01 April 2016

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death

scientific article published on 01 May 2015

Late endosome motility depends on lipids via the small GTPase Rab7.

scientific article

Mechanism of NADPH oxidase activation by the Rac/Rho-GDI complex

scientific article (publication date: 28 August 2001)

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

scientific article published on 29 July 2016

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

scientific article published on 15 February 2018

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

scientific article

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

scientific article published on 09 October 2014

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

scientific article published on 29 December 2017

Phosphoinositide-dependent activation of Rho A involves partial opening of the RhoA/Rho-GDI complex

scientific article published on 01 June 1999

Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

scientific article published on 6 May 2016

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

article

Role of triadin in the organization of reticulum membrane at the muscle triad

scientific journal article

Ryanodine receptor type 1: redox state matters

scientific article published in November 2008

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

scientific article published on 29 May 2017

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

scientific article published on 11 October 2018

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia

scientific article published on 21 June 2018

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

scientific article published on 11 December 2012

Topological organization of the cytosolic activating complex of the superoxide-generating NADPH-oxidase. Pinpointing the sites of interaction between p47phoz, p67phox and p40phox using the two-hybrid system.

scientific article

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.

scientific article published on 25 August 2016

Triadin: what possible function 20 years later?

scientific article published on 29 April 2009

Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.

scientific article

List of works by Julien Fauré

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer.

ARF1 regulates Nef-induced CD4 degradation.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

Excitation-Contraction Coupling Alterations in Myopathies

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Exosomes are released by cultured cortical neurones.

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death

Late endosome motility depends on lipids via the small GTPase Rab7.

Mechanism of NADPH oxidase activation by the Rac/Rho-GDI complex

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Phosphoinositide-dependent activation of Rho A involves partial opening of the RhoA/Rho-GDI complex

Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

Role of triadin in the organization of reticulum membrane at the muscle triad

Ryanodine receptor type 1: redox state matters

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Topological organization of the cytosolic activating complex of the superoxide-generating NADPH-oxidase. Pinpointing the sites of interaction between p47phoz, p67phox and p40phox using the two-hybrid system.

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.

Triadin: what possible function 20 years later?

Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.