Associated Papers
A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.
Valmiki S et al.
Journal of Lipid Research, 2025
A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Rodríguez Gutiérrez PG et al.
Journal of Clinical Laboratory Analysis, 2021
The crystal structure of human microsomal triglyceride transfer protein.
Biterova EI et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.
Walsh MT et al.
Critical Reviews in Clinical Laboratory Sciences, 2017
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
Walsh MT et al.
Circulation. Cardiovascular Genetics, 2015
Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.
Hooper AJ et al.
Circulation Research, 2015
Novel missense MTTP gene mutations causing abetalipoproteinemia.
Miller SA et al.
Biochimica Et Biophysica Acta, 2014
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
Lee J et al.
Journal of Inherited Metabolic Disease, 2014
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
Khatun I et al.
Journal of Lipid Research, 2013
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
Aminoff A et al.
Clinical Genetics, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Abetalipoproteinemia: two case reports and literature review.
Zamel R et al.
Orphanet Journal of Rare Diseases, 2008
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Di Leo E et al.
Atherosclerosis, 2005
Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.
Hooper AJ et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Clinical features and molecular bases of neuroacanthocytosis.
Rampoldi L et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
Ohashi K et al.
Journal of Lipid Research, 2000
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
Wang J et al.
Human Mutation, 2000
A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase.
Bradbury P et al.
The Journal of Biological Chemistry, 1999
The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins.
Mann CJ et al.
Journal of Molecular Biology, 1999
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
Rehberg EF et al.
The Journal of Biological Chemistry, 1996
Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
Di Filippo M et al.
Journal of Clinical Lipidology, 0