Výsledky vyhledávání - "Marie Elisabeth Samson-Bouma"

Akademický článek

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Autor: Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P. Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas

Publikováno v: Journal of Lipid Research, Vol 53, Iss 3, Pp 548-555 (2012)

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B–containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP)

Externí odkaz: https://doaj.org/article/a69b7eded4284d2ba20cc34150978dfe

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Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

Autor: Jacques Schmitz, Mathilde Di Filippo, Dominique Bonnefont-Rousselot, Sabrina Dumont, Latifa Ferkdadji, Catherine Boileau, Mathilde Varret, V. Boehm, Francisca Joly, Jean-Pierre Rabès, Laurent Abramowitz, Catherine Lenaerts, Marie-Elisabeth Samson-Bouma

Publikováno v: Journal of clinical lipidology
Journal of clinical lipidology, Elsevier, 2019, 13 (1), pp.201-212. ⟨10.1016/j.jacl.2018.10.003⟩
Journal of clinical lipidology, 2019, 13 (1), pp.201-212. ⟨10.1016/j.jacl.2018.10.003⟩

International audience; BACKGROUND: Abetalipoproteinemia, a recessive disease resulting from deleterious variants in MTTP (microsomal triglyceride transfer protein), is characterized by undetectable concentrations of apolipoprotein B, extremely low l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd577bfde631128785d0e1d4e604b2a
https://hal.archives-ouvertes.fr/hal-02195269

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Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

Publikováno v: Journal of Hepatology
Journal of Hepatology, Elsevier, 2014, 61 (4), pp.891-902. ⟨10.1016/j.jhep.2014.05.023⟩
Journal of Hepatology, 2014, 61 (4), pp.891-902. ⟨10.1016/j.jhep.2014.05.023⟩
Journal of Hepatology, 61(4), 891-902. Elsevier

Background & Aims: Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e755a077786e4ec079b5626d29ce5fd
https://hal.archives-ouvertes.fr/hal-01859387

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Microvillous atrophy: atypical presentations

Autor: Dominique Berrebi, Séverine Drunat, Hayet Bensallah, Brigitte Arbeille, Jean-Pierre Hugot, Olivier Goulet, Marie-Elisabeth Samson-Bouma, Ariane Perry, Bénédicte Gérard, Julie Salomon, Evelyne Marinier, Christine Martinez-Vinson

Publikováno v: Journal of pediatric gastroenterology and nutrition. 59(6)

Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Parenteral nutrition and small bowel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c7f569c5651a3a41e8bc289511ffdb
https://pubmed.ncbi.nlm.nih.gov/25111220

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Effects of dietary coconut oil on apolipoprotein B synthesis and VLDL secretion by calf liver slices

Autor: Dominique Gruffat-Mouty, Dominique Bauchart, Marie Elisabeth Samson-Bouma, Benoît Graulet, Denys Durand

Publikováno v: British Journal of Nutrition
British Journal of Nutrition, Cambridge University Press (CUP), 2001, 86 (1), pp.13-19. ⟨10.1079/BJN2001361⟩

Incorporation of coconut oil (CO) rich in lauric acid into the milk diet induces a lipid infiltration of the liver (steatosis) in 1-month-old calves. Among possible steps involved in diet-induced liver steatosis, the ability of the calf liver to synt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a51b64c76c0d1d1aca1809230d241ca
https://doi.org/10.1079/bjn2001361

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A Novel Abetalipoproteinemia Genotype

Autor: Bernadette Kienzle, Lawrence P. Aggerbeck, Laura Blinderman, Marie-Elisabeth Samson-Bouma, David A. Gordon, Jamil Haris, John R. Wetterau, Edward F. Rehberg

Publikováno v: Journal of Biological Chemistry. 271:29945-29952

The microsomal triglyceride transfer protein (MTP) is a heterodimer composed of the ubiquitous multifunctional protein, protein disulfide isomerase, and a unique 97-kDa subunit. Mutations that lead to the absence of a functional 97-kDa subunit cause

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f40bc86cd213a12b29d4d03754c2aa6c
https://doi.org/10.1074/jbc.271.47.29945

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Ultrastructural immunogold labeling of lipid-laden enterocytes from patients with genetic malabsorption syndromes

Autor: Nicole Verthier, Jack A.M. Fransen, Lawrence P. Aggerbeck, Gérard Feldmann, Marie-Elisabeth Samson-Bouma, L.A. Ginsel

Publikováno v: Biology of the Cell. 87:189-196

Intestinal biopsies from patients having genetic disorders of lipoprotein assembly and secretion, such as abetalipoproteinemia (ABL) or Anderson's disease (AD), contain large amounts of lipids which are accumulated in the enterocytes. Determination o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e7d3dd0556f2f6cc7d70ec865fd5cb8
https://doi.org/10.1111/j.1768-322x.1996.tb00980.x

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Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene

Autor: Lawrence P. Aggerbeck, Marie-Elisabeth Samson-Bouma, M. Di Filippo, Noël Peretti, Agnès Sassolas

Publikováno v: Mutations in Human Genetic Disease

Anderson’s Disease (AD)/Chylomicron Retention Disease (CMRD) (OMIM #607689) is a rare autosomal recessively inherited lipid malabsorption syndrome characterized by hypocholesterolemia associated with failure to thrive, diarrhea, steatorrhea and abd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceda5fcd2bb941a9f3258285486a41c4
http://www.intechopen.com/articles/show/title/anderson-s-disease-chylomicron-retention-disease-and-mutations-in-the-sar1b-gene

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Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease)

Autor: Thomas Aparicio, Dominique Bligny, Hassane Nazih, Thierry Magot, Yassine Zair, Marie Elisabeth Samson-Bouma, Jacques Schmitz, Maud Chétiveaux, Khadija Ouguerram, Fatima Kasbi-Chadli, Laurence P. Aggerbeck, Michel Krempf

Publikováno v: Arteriosclerosis, thrombosis, and vascular biology. 32(6)

Objective— Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. The aim of this article was to analyze the mechanisms responsible for the low plasma apolipoprotein Apo-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cac835863ee0168dfe8a27bbe2c7e31
https://pubmed.ncbi.nlm.nih.gov/22441101

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