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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
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
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
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C et al.
Journal of Investigative Medicine High Impact Case Reports, 0