Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Autor: Mathilde Di Filippo, Christophe Marçais, Sybil Charrière, Oriane Marmontel, Martine Broyer, Mireille Delay, Micheline Merlin, Axel Nollace, René Valéro, Michel Lagarde, Valérie Pruneta-Deloche, Philippe Moulin, Agnès Sassolas

Publikováno v: PLoS ONE, Vol 9, Iss 5, p e96482 (2014)

BACKGROUND: Determination of lipoprotein lipase (LPL) activity is important for hyperchylomicronemia diagnosis, but remains both unreliable and cumbersome with current methods. Consequently by using human VLDL as substrate we developed a new LPL assa

Externí odkaz: https://doaj.org/article/52db34c3708f4327920442435ee41040

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia

Autor: Oriane Marmontel, Yara Abou-Khalil, Olivier Bluteau, Bertrand Cariou, Valérie Carreau, Sybil Charrière, Eleonore Divry, Antonio Gallo, Philippe Moulin, François Paillard, Noel Peretti, Jean-Pierre Rabès, Mathilde Varret, Alain Carrié, Mathilde Di Filippo

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology.

Background: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in LDLR , APOB , or PCSK9 genes. Double heterozygote for these genes induces a more severe phenotype. More recently, a new causative variant of heterozygous ADH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4459236d63a6a40f83db9cce25e10f59
https://doi.org/10.1161/atvbaha.123.319146

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia

Autor: Xavier Vanhoye, Claire Bardel, Antoine Rimbert, Philippe Moulin, Pierre-Antoine Rollat-Farnier, Manon Muntaner, Oriane Marmontel, Sabrina Dumont, Sybil Charrière, François Cornélis, Pierre Henri Ducluzeau, Annie Fonteille, Estelle Nobecourt, Noël Peretti, Franck Schillo, Matthieu Wargny, Bertrand Cariou, Aline Meirhaeghe, Mathilde Di Filippo

Publikováno v: Translational research : the journal of laboratory and clinical medicine.

Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a growing evidence that a polygenic burden significantly modulates LDL-cholesterol (LDL-c) concent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ec981dbf92714de1a59a8ea88152c3
https://pubmed.ncbi.nlm.nih.gov/36528340

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

Autor: Xavier Vanhoye, Alexandre Janin, Amandine Caillaud, Antoine Rimbert, Fabienne Venet, Morgane Gossez, Wieneke Dijk, Oriane Marmontel, Séverine Nony, Charlotte Chatelain, Christine Durand, Pierre Lindenbaum, Jennifer Rieusset, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (8), pp.4281. ⟨10.3390/ijms23084281⟩
International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4281

International audience; Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia (FHBL) is mostly caused by premature terminatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63da4076c58e468d981359fe8dd59077
https://doi.org/10.3390/ijms23084281

Author response for 'DEVELOPMENT OF A NEW EXPANDED NEXT‐GENERATION SEQUENCING PANEL FOR GENETIC DISEASES INVOLVED IN DYSLIPIDEMIA'

Autor: Sybil Charrière, Chantal Jacobs, Mathilde Di Filippo, Noël Peretti, Thomas Simonet, Philippe Moulin, Delphine Collin-Chavagnac, Alexandre Janin, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, Oriane Marmontel, Séverine Nony, Igor Tauveron, Cyrielle Caussy, X. Vanhoye, Gilles Millat, Sabrina Dumont, Pierre Poinsot, Muriel Mahl, Christophe Marçais, Claire Bardel, Nicolas Chatron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb94f0729bd4cb31ee902336b2d6d36e
https://doi.org/10.1111/cge.13832/v2/response1