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

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

23 Jul 2023

Abstract excerpt

BACKGROUND: Protein synthesis is a tightly controlled process, involving a host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to neurodevelopmental-delay phenotypes, followed by their implication in dystonia. Recently, de novo variants in EIF4A2, encoding eukaryotic translation initiation factor 4A isoform 2 (eIF4A2), have...

Read the complete abstract on PubMed

Topics

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

Share to Genomics and Rare Diseases
Share to Neurogenetic and Muscular Disorders Research
Share to RNA and protein synthesis mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37485550
DOI: 10.1002/mds.29562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionPMID 37485550Read ↗

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for DystoniaSemantic proximity Read ↗

Autism- and epilepsy-associated <i>EEF1A2</i> mutations lead to translational dysfunction and altered actin bundlingSemantic proximity Read ↗

eIF2α phosphorylation evokes dystonia-like movements with D2-receptor and cholinergic origin and abnormal neuronal connectivitySemantic proximity Read ↗

Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.Semantic proximity Read ↗

IGHMBP2 deletion suppresses translation and activates the integrated stress responseSemantic proximity Read ↗

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderSemantic proximity Read ↗

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.Semantic proximity Read ↗

Dysregulation of mRNA Localization and Translation in Genetic Disease.Semantic proximity Read ↗

Loss-of-function cancer-associated mutations in the EIF4G2 non-canonical translation initiation factorSemantic proximity Read ↗

<i>De novo EIF2AK1</i> and <i>EIF2AK2</i> variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensationSemantic proximity Read ↗

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.Semantic proximity Read ↗

Loss-of-function cancer-linked mutations in the EIF4G2 non-canonical translation initiation factor.Semantic proximity Read ↗

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