Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.

Human molecular genetics - 1 May 2017

Strøm Thea Bismo, Laerdahl Jon K, Leren Trond P

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein receptor (LDLR) gene. To study the impact of mutations affecting the hydrophobic transmembrane domain of the LDLR, each of the 22 amino acids of the transmembrane domain was individually mutated to arginine. The more centrally in the transmembrane domain an arginine was located, the lower amounts of the 120 kDa precursor LDLR...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloid Precursor Protein Secretases
Share to Endocytosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Hep G2 Cells

Share to Hyperlipoproteinemia Type II

Share to Protein Domains

Share to Proteolysis

Share to Receptors, LDL

Source

Identifiers

PMID: 28334946
DOI: 10.1093/hmg/ddx068

Genes

LDLR
EGFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.PMID 28334946Read ↗

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.Semantic proximity Read ↗

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.Semantic proximity Read ↗

Expression of an LDL receptor allele with two different mutations (E256K and I402T).Semantic proximity Read ↗

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.Semantic proximity Read ↗

PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.Semantic proximity Read ↗

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.Semantic proximity Read ↗

Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.Semantic proximity Read ↗

Model system for phenotypic characterization of sequence variations in the LDL receptor gene.Semantic proximity Read ↗

Low-density lipoprotein receptor--its structure, function, and mutations.Semantic proximity Read ↗

Alteration of negatively charged residues in the 89 to 99 domain of apoA-I affects lipid homeostasis and maturation of HDL.Semantic proximity Read ↗

Structure and regulation of the LDL-receptor and its gene.Semantic proximity Read ↗

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.