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Article

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.

Human molecular genetics - 15 Aug 2012

Renvoisé Benoît, Stadler Julia, Singh Rajat, Bakowska Joanna C, Blackstone Craig

Abstract excerpt

Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurological disorders characterized by lower extremity spasticity and weakness. Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of short stature, cognitive deficits and distal amyotrophy. To identify cellular impairments underlying Troyer syndrome, we...

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Identifiers

PMID: 22619377
DOI: 10.1093/hmg/dds191
PMCID: PMC3406757

Genes

IST1

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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