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
Current Diagnosis and Management of Abetalipoproteinemia.
Takahashi M et al.
Journal of Atherosclerosis and Thrombosis, 2021
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
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
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
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
Maruyama T et al.
Journal of Atherosclerosis and Thrombosis, 2004
Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly.
Hussain MM et al.
Journal of Lipid Research, 2003
Clinical features and molecular bases of neuroacanthocytosis.
Rampoldi L et al.
Journal of Molecular Medicine (berlin, Germany), 2002
A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein.
Read J et al.
The Journal of Biological Chemistry, 2000
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
Ohashi K et al.
Journal of Lipid Research, 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