ArticleNeurogenetics2014
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- AIMP1: multifunctional regulator in physiology and pathology with therapeutic implications.PeerJ · 2025Review
- Amyloid-like aggregating proteins cause lysosomal defects in neurons via gain-of-function toxicity.Life science alliance · 2022Article
- Changes in the expression of endothelial monocyte‑activating polypeptide II in the rat hippocampus following status epilepticus.International journal of molecular medicine · 2021Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.Neurogenetics · 2019Article
- Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.Nature communications · 2019Article
- Article
- Aminoacyl tRNA synthetase complex interacting multifunctional protein 1 simultaneously binds Glutamyl-Prolyl-tRNA synthetase and scaffold protein aminoacyl tRNA synthetase complex interacting multifunctional protein 3 of the multi-tRNA synthetase complex.The international journal of biochemistry & cell biology · 2018Article
- Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.American journal of human genetics · 2017Article
- Exome Sequencing and the Management of Neurometabolic Disorders.The New England journal of medicine · 2016Article
- Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.European journal of human genetics : EJHG · 2016Article
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell reports · 2015Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.
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