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Marianne Abifadel
Researcher at Saint Joseph's University
Publications - 63
Citations - 7334
Marianne Abifadel is an academic researcher from Saint Joseph's University. The author has contributed to research in topics: PCSK9 & LDL receptor. The author has an hindex of 28, co-authored 53 publications receiving 6442 citations. Previous affiliations of Marianne Abifadel include Paris Diderot University & French Institute of Health and Medical Research.
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Journal ArticleDOI
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Marianne Abifadel,Mathilde Varret,Jean-Pierre Rabès,Delphine Allard,Khadija Ouguerram,Martine Devillers,Corinne Cruaud,Suzanne Benjannet,Louise Wickham,D. Erlich,Aurélie Derré,Ludovic Villéger,Michel Farnier,Isabel Beucler,Eric Bruckert,Jean Chambaz,Bernard Chanu,Jean-Michel Lecerf,Gérald Luc,Philippe Moulin,Jean Weissenbach,Annick Prat,Michel Krempf,Claudine Junien,Nabil G. Seidah,Catherine Boileau +25 more
TL;DR: Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
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NARC-1/PCSK9 and Its Natural Mutants ZYMOGEN CLEAVAGE AND EFFECTS ON THE LOW DENSITY LIPOPROTEIN (LDL) RECEPTOR AND LDL CHOLESTEROL
Suzanne Benjannet,David Rhainds,Rachid Essalmani,Janice Mayne,Louise Wickham,Weijun Jin,Marie-Claude Asselin,Josée Hamelin,Mathilde Varret,Delphine Allard,Mélanie Trillard,Marianne Abifadel,Angie Tebon,Alan D. Attie,Daniel J. Rader,Catherine Boileau,Louise Brissette,Michel Chrétien,Annik Prat,Nabil G. Seidah +19 more
TL;DR: NARC-1 seems to affect both the level of LDLR and that of circulating apoB-containing lipoproteins in an LDLR-dependent and -independent fashion.
Journal ArticleDOI
Heterozygous TGFBR2 mutations in Marfan syndrome
Takeshi Mizuguchi,Gwenaëlle Collod-Béroud,Takushi Akiyama,Marianne Abifadel,Naoki Harada,Takayuki Morisaki,Delphine Allard,Mathilde Varret,Mireille Claustres,Hiroko Morisaki,Makoto Ihara,Akira Kinoshita,Koh-ichiro Yoshiura,Claudine Junien,Tadashi Kajii,Guillaume Jondeau,Tohru Ohta,Tohru Ohta,Tatsuya Kishino,Yoichi Furukawa,Yusuke Nakamura,Norio Niikawa,Catherine Boileau,Naomichi Matsumoto,Naomichi Matsumoto +24 more
TL;DR: Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Catherine Boileau,Dongchuan Guo,Nadine Hanna,Ellen S. Regalado,Delphine Detaint,Limin Gong,Mathilde Varret,Siddharth K. Prakash,Alexander H. Li,Hyacintha d'Indy,Alan C. Braverman,Bernard Grandchamp,Callie S. Kwartler,Laurent Gouya,Regie Lyn P. Santos-Cortez,Marianne Abifadel,Suzanne M. Leal,Christine Muti,Jay Shendure,Marie Sylvie Gross,Mark J. Rieder,Alec Vahanian,Deborah A. Nickerson,Jean-Baptiste Michel,Guillaume Jondeau,Dianna M. Milewicz,Dianna M. Milewicz +26 more
TL;DR: Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identified causative mutations in TGFB2, suggesting that the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in T GF- β2 production in the diseased aorta.
Journal ArticleDOI
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
Marianne Abifadel,Jean-Pierre Rabès,Martine Devillers,Martine Devillers,Martine Devillers,Arnold Munnich,Arnold Munnich,Arnold Munnich,D. Erlich,D. Erlich,D. Erlich,Claudine Junien,Claudine Junien,Claudine Junien,Mathilde Varret,Mathilde Varret,Mathilde Varret,Catherine Boileau +17 more
TL;DR: The discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor in cholesterol metabolism that since then has been extensively investigated.