Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
about
Reliance of host cholesterol metabolic pathways for the life cycle of hepatitis C virusAbetalipoproteinemia: two case reports and literature reviewMultiple functions of microsomal triglyceride transfer proteinMolecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaLoss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemiaNovel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein FunctionAtaxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesMutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemiaA distal effect of microsomal triglyceride transfer protein deficiency on the lysosomal recycling of CD1dFamilial hypercholesterolemia: present and future managementHepatitis C virus production by human hepatocytes dependent on assembly and secretion of very low-density lipoproteinsNew Era of Lipid-Lowering DrugsA common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomeraseThe abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domainA 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 isomeraseapo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotesMicrosomal triacylglycerol transfer protein is required for lumenal accretion of triacylglycerol not associated with ApoB, as well as for ApoB lipidationMicrosomal triglyceride transfer protein and its role in apoB-lipoprotein assemblyDemonstration of a physical interaction between microsomal triglyceride transfer protein and apolipoprotein B during the assembly of ApoB-containing lipoproteinsAutosomal recessive cerebellar ataxias.Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemiaTemporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.Diagnosis of inherited metabolic disorders affecting the nervous systemAnalysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice.Traffic jam: a compendium of human diseases that affect intracellular transport processes.A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).Assembly of lipoprotein particles containing apolipoprotein-B: structural model for the nascent lipoprotein particleGuidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.Cholesterol absorption status and fasting plasma cholesterol are modulated by the microsomal triacylglycerol transfer protein -493 G/T polymorphism and the usual diet in women.Apolipoprotein B metabolism: tracer kinetics, models, and metabolic studies.Genetic determinants of hepatic steatosis in man.Murine mammary-derived cells secrete the N-terminal 41% of human apolipoprotein B on high density lipoprotein-sized lipoproteins containing a triacylglycerol-rich core.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Molecular basis of a null mutation in soybean lipoxygenase 2: substitution of glutamine for an iron-ligand histidineSecretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availabilityPathways to motor incoordination: the inherited ataxias.Gene therapy for dyslipidemia: a review of gene replacement and gene inhibition strategiesRecent advances in hereditary spinocerebellar ataxias.Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.
P2860
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P2860
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
description
1993 nî lūn-bûn
@nan
1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@ast
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@en
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@nl
type
label
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@ast
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@en
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@nl
prefLabel
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@ast
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@en
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@nl
P2093
P356
P1433
P1476
Cloning and gene defects in mi ...... ted with abetalipoproteinaemia
@en
P2093
K Wager-Smith
L Blinderman
P2888
P356
10.1038/365065A0
P407
P577
1993-09-02T00:00:00Z
P6179
1025848365