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

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.

Human genetics - 1 Aug 2023

Candia Noemi, Ibacache Andrés, Medina-Yáñez Ignacio, Olivares Gonzalo H, Ramírez Mauricio, Vega-Macaya Franco, Couve Andrés, Sierralta Jimena, Olguín Patricio

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive dysfunction of corticospinal motor neurons. Mutations in Atlastin1/Spg3, a small GTPase required for membrane fusion in the endoplasmic reticulum, are responsible for 10% of HSPs. Patients with the same Atlastin1/Spg3 mutation present high variability in age at onset and severity, suggesting a fundamental...

Read the complete abstract on PubMed

Topics

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

Share to Drosophila
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 37368047
DOI: 10.1007/s00439-023-02577-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.PMID 37368047Read ↗

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Semantic proximity Read ↗

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Semantic proximity Read ↗

Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development.Semantic proximity Read ↗

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.Semantic proximity Read ↗

Genome-wide screen for modifiers of Na (+) /K (+) ATPase alleles identifies critical genetic loci.Semantic proximity Read ↗

Mutation-specific cellular mechanisms in Drosophila models of ATL1-associated hereditary spastic paraplegia.Semantic proximity Read ↗

Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.Semantic proximity Read ↗

A behavioral screen for mediators of age-dependent TDP-43 neurodegeneration identifies SF2/SRSF1 among a group of potent suppressors in both neurons and gliaSemantic proximity Read ↗

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Semantic proximity Read ↗

Developmental and degenerative features in a complicated spastic paraplegia.Semantic proximity Read ↗

Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology.Semantic proximity Read ↗

Knockdown of genes involved in axonal transport enhances the toxicity of human neuromuscular disease-linked MATR3 mutations in Drosophila.Semantic proximity Read ↗

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