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Article

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Molecular and cellular neurosciences - 1 Jan 2011

Botzolakis Emmanuel J, Zhao Jiali, Gurba Katharine N, Macdonald Robert L, Hedera Peter

Abstract excerpt

Despite its genetic heterogeneity, hereditary spastic paraplegia (HSP) is characterized by similar clinical phenotypes, suggesting that a common biochemical pathway underlies its pathogenesis. In support of this hypothesis, we used a combination of immunoprecipitation, confocal microscopy, and flow cytometry to demonstrate that two HSP-associated proteins, atlastin-1 and NIPA1, are direct binding partners, and...

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Identifiers

PMID: 20816793
DOI: 10.1016/j.mcn.2010.08.012
PMCID: PMC3010260

Genes

NIPA1

Variants

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.

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