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

Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.

Protein science : a publication of the Protein Society - 1 Jun 2020

Gadbery John E, Abraham Abin, Needle Carli D, Moth Christopher, Sheehan Jonathan, Capra John A, Jackson Lauren P

Abstract excerpt

Genetic variation in the membrane trafficking adapter protein complex 4 (AP-4) can result in pathogenic neurological phenotypes including microencephaly, spastic paraplegias, epilepsy, and other developmental defects. We lack molecular mechanisms responsible for impaired AP-4 function arising from genetic variation, because AP-4 remains poorly understood structurally. Here, we analyze patterns of AP-4 genetic...

Read the complete abstract on PubMed

Topics

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

Share to Evolution, Molecular
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Protein Conformation

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 32285480
DOI: 10.1002/pro.3870
PMCID: PMC7255511

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.PMID 32285480Read ↗

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.Semantic proximity Read ↗

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.Semantic proximity Read ↗

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilitySemantic proximity Read ↗

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.Semantic proximity Read ↗

Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delaySemantic proximity Read ↗

AlphaCluster: Coevolutionary driven residue-residue interaction models enable quantifiable clustering analysis of de novo variants to enhance predictions of pathogenicitySemantic proximity Read ↗

Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.Semantic proximity Read ↗

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1 , ATP1A2 , and ATP1A3Semantic proximity Read ↗

Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.Semantic proximity Read ↗

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.Semantic proximity Read ↗

Structural basis for the dynamic conformations of AP-4 and its association with ARF1.Semantic proximity Read ↗

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Semantic proximity Read ↗

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