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Article

Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.

Human molecular genetics - 23 Aug 2022

Zhu Peng-Peng, Hung Hui-Fang, Batchenkova Natalia, Nixon-Abell Jonathon, Henderson James, Zheng Pengli, Renvoisé Benoit, Pang Song, Xu C Shan, Saalfeld Stephan, Funke Jan, Xie Yuxiang, Svara Fabian, Hess Harald F, Blackstone Craig

Abstract excerpt

Hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders affecting the longest corticospinal axons (SPG1-86 plus others), with shared manifestations of lower extremity spasticity and gait impairment. Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A)...

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Axons
Endoplasmic Reticulum
GTP Phosphohydrolases
Membrane Proteins
Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 35348668
DOI: 10.1093/hmg/ddac072
PMCID: PMC9402237

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