Lista de obras - Sylvie Friant - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 1996

Heterogeneous terminal structure of Ty1 and Ty3 reverse transcripts

artículo científico publicado en 1997

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

artículo científico publicado en 2003

Interactions between Ty1 Retrotransposon RNA and the T and D Regions of the tRNAiMet Primer Are Required for Initiation of Reverse Transcription In Vivo ⬇️

artículo científico publicado el 1 de febrero de 1998

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

artículo científico publicado en 2013

Membrane trafficking in the yeast Saccharomyces cerevisiae model

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 1995

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Lista de obras de Sylvie Friant

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

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

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

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

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

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

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

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

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

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

Heterogeneous terminal structure of Ty1 and Ty3 reverse transcripts

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

Interactions between Ty1 Retrotransposon RNA and the T and D Regions of the tRNAiMet Primer Are Required for Initiation of Reverse Transcription In Vivo ⬇️

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

Membrane trafficking in the yeast Saccharomyces cerevisiae model

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

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

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

Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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