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List of works by Sylvie Friant

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

scientific article published on 28 May 2019

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

scientific article

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

scientific article published on 13 November 2017

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

scientific article published on 28 May 2020

Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins

scientific article published on 15 December 2014

Ent3p Is a PtdIns(3,5)P2 effector required for protein sorting to the multivesicular body.

scientific article

Ent5p is required with Ent3p and Vps27p for ubiquitin-dependent protein sorting into the multivesicular body.

scientific article

Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism.

scientific article

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

scientific article published on October 2017

Extended interactions between the primer tRNAi(Met) and genomic RNA of the yeast Ty1 retrotransposon.

scientific article

Heterogeneous terminal structure of Ty1 and Ty3 reverse transcripts

scientific article

Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction

scientific article

Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis

scientific article (publication date: 2013)

Membrane trafficking in the yeast Saccharomyces cerevisiae model

scientific article

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

scientific article published on 18 June 2019

Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells

scientific article

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice

scientific article

Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways

scientific article published on 15 March 2017

Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes

scientific article published in October 2012

Plus-strand DNA synthesis of the yeast retrotransposon Ty1 is initiated at two sites, PPT1 next to the 3' LTR and PPT2 within the pol gene. PPT1 is sufficient for Ty1 transposition.

scientific article

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

scientific article published on 05 June 2020

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

scientific article published on 04 December 2018

Role of RNA primers in initiation of minus-strand and plus-strand DNA synthesis of the yeast retrotransposon Ty1

scientific article published on 01 January 1996

SH3 domain-containing proteins and the actin cytoskeleton in yeast.

scientific article

Sequence Comparison of the Ty1 and Ty2 Elements of the Yeast Genome Supports the Structural Model of the tRNAiMet–Ty1 RNA Reverse Transcription Initiation Complex

article

Sphingoid base signaling via Pkh kinases is required for endocytosis in yeast

scientific article

Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants.

scientific article

The Saccharomyces cerevisiae flavodoxin-like proteins Ycp4 and Rfs1 play a role in stress response and in the regulation of genes related to metabolism.

scientific article

The WASP/Las17p-interacting protein Bzz1p functions with Myo5p in an early stage of endocytosis.

scientific article

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

scientific journal article

WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.

scientific article published on 15 September 2016

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

scientific article published on 12 October 2017

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals-Illustrated with Four Actin Cytoskeleton Proteins

scientific article published on 10 March 2020

Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking

scientific article published on 13 July 2015

[Phosphoinositides: lipidic essential actors in the intracellular traffic].

scientific article

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