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

Developmental delay and late onset HBSL pathology in hypomorphic Dars1M256L mice.

Neurochemical research - 1 Jul 2022

Klugmann Matthias, Kalotay Elizabeth, Delerue Fabien, Ittner Lars M, Bongers Andre, Yu Josephine, Morris Margaret J, Housley Gary D, Fröhlich Dominik

Abstract excerpt

The leukodystrophy Hypomyelination with Brainstem and Spinal cord involvement and Leg spasticity (HBSL) is caused by recessive mutations of the DARS1 gene, which encodes the cytoplasmic aspartyl-tRNA synthetase. HBSL is a spectrum disorder with disease onset usually during early childhood and no available treatment options. Patients display regression of previously acquired motor milestones, spasticity, ataxia,...

Read the complete abstract on PubMed

Topics

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

Share to Aspartate-tRNA Ligase
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Demyelinating Diseases

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35357600
DOI: 10.1007/s11064-022-03582-4
PMCID: PMC9217827

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

Developmental delay and late onset HBSL pathology in hypomorphic Dars1M256L mice.PMID 35357600Read ↗

In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL.Semantic proximity Read ↗

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Semantic proximity Read ↗

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.Semantic proximity Read ↗

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsSemantic proximity Read ↗

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.Semantic proximity Read ↗

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.Semantic proximity Read ↗

Metabolic alterations in the absence of a detectable neuromuscular phenotype in novel genomically humanised <i> SOD1 <sup>A4V</sup> </i> miceSemantic proximity Read ↗

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.Semantic proximity Read ↗

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.Semantic proximity Read ↗

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.Semantic proximity Read ↗

Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer's disease.Semantic proximity Read ↗

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes.Semantic proximity Read ↗

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