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
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
Wilson MH et al.
Plos Genetics, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
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
Complex genetic architecture in severe hypobetalipoproteinemia.
Wang LR et al.
Lipids in Health and Disease, 2018
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
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
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
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
Al-Shali K et al.
Clinical Genetics, 2003
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