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
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI et al.
Jhep Reports : Innovation in Hepatology, 2023
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
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
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
Gündüz M et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2016
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
Di Filippo M et al.
Journal of Lipid Research, 2012
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