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Article

Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Human molecular genetics - 1 Apr 2019

Qiang Liang, Piermarini Emanuela, Muralidharan Hemalatha, Yu Wenqian, Leo Lanfranco, Hennessy Laura E, Fernandes Silvia, Connors Theresa, Yates Philip L, Swift Michelle, Zholudeva Lyandysha V, Lane Michael A, Morfini Gerardo, Alexander Guillermo M, Heiman-Patterson Terry D, Baas Peter W

Abstract excerpt

Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of hereditary spastic paraplegia (HSP). Haploinsufficiency is the prevalent opinion as to the mechanism of the disease, but gain-of-function toxicity of the mutant proteins is another possibility. Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that is not haploinsufficient but expresses...

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Identifiers

PMID: 30520996
DOI: 10.1093/hmg/ddy419
PMCID: PMC6423423

Genes

SPAST

Variants

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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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