ArticleMolecular biology of the cell2015
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Article in Molecular biology of the cell, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Tubular ER dysfunction in neurodegenerative diseases.Neurobiology of disease · 2025Review
- Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.Journal of neurology · 2024Article
- Dissecting the mechanism of atlastin-mediated homotypic membrane fusion at the single-molecule level.Nature communications · 2024Article
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.International journal of molecular sciences · 2024Review
- Endoplasmic reticulum membranes are continuously required to maintain mitotic spindle size and forces.Life science alliance · 2023Article
- Article
- Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.The Journal of cell biology · 2022Article
- Review
- Article
- ExtensiveScientifica · 2020Article
- A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.Cellular and molecular life sciences : CMLS · 2019Article
- Atlastin-1 regulates morphology and function of endoplasmic reticulum in dendrites.Nature communications · 2019Article
- A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.The Journal of biological chemistry · 2018Article
- Atlastin regulates store-operated calcium entry for nerve growth factor-induced neurite outgrowth.Scientific reports · 2017Article
- Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.Human molecular genetics · 2016Article
- Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration.Molecular biology of the cell · 2016Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
At least 38 distinct missense mutations in the neuronal atlastin1/SPG3A GTPase are implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower limb weakness and spasticity and length-dependent axonopathy of corticospinal motor neurons. Because the atlastin GTPase is sufficient to catalyze membrane fusion and required to form the ER network, at least in nonneuronal cells, it is logically assumed that defects in ER membrane morphogenesis due to impaired fusion activity are the primary drivers of SPG3A-associated HSP. Here we analyzed a subset of established atlastin1/SPG3A disease variants using cell-based assays for atlastin-mediated ER network formation and biochemical assays for atlastin-catalyzed GTP hydrolysis, dimer formation, and membrane fusion. As anticipated, some variants exhibited clear deficits. Surprisingly however, at least two disease variants, one of which represents that most frequently identified in SPG3A HSP patients, displayed wild-type levels of activity in all assays. The same variants were also capable of co-redistributing ER-localized REEP1, a recently identified function of atlastins that requires its catalytic activity. Taken together, these findings indicate that a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for HSP causation.
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