ArticleArchives of neurology2008
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
Article in Archives of neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 41 citations in OpenAlex.
- Case Report: Novel homozygous pathogenic variant of theFrontiers in genetics · 2026Article
- The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.Nature cell biology · 2023Article
- A novel missense mutation (c.1006C>T) ofJournal of genetics · 2020Article
- Novel SPG20 mutation in an extended family with Troyer syndrome.Metabolic brain disease · 2017Article
- Mitochondrial energy metabolism is required for lifespan extension by the spastic paraplegia-associated protein spartin.Microbial cell (Graz, Austria) · 2017Article
- Article
- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.JIMD reports · 2017Article
- Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Human molecular genetics · 2015Article
- Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners.Journal of experimental neuroscience · 2015Article
- Article
- The role of spartin and its novel ubiquitin binding region in DALIS occurrence.Molecular biology of the cell · 2014Article
- Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.Human molecular genetics · 2012Article
- Cellular pathways of hereditary spastic paraplegia.Annual review of neuroscience · 2012Review
- SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.Oncogene · 2011Article
- SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.PloS one · 2011Article
- SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.Molecular biology of the cell · 2010Article
- Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.Neurogenetics · 2010Article
- Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.BMC biology · 2010Article
- Developmental and degenerative features in a complicated spastic paraplegia.Annals of neurology · 2010Article
- The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.Human molecular genetics · 2009Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundHereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients.
objectiveTo determine whether the truncated spartin protein is present or absent in cells derived from patients with Troyer syndrome.
designCase report.
settingAcademic research. PATIENTS: We describe a new family with Troyer syndrome due to the 1110delA mutation.
main outcome measuresWe cultured primary fibroblasts and generated lymphoblasts from affected individuals, carriers, and control subjects and subjected these cells to immunoblot analyses.
resultsSpartin protein is undetectable in several cell lines derived from patients with Troyer syndrome.
conclusionsOur data suggest that Troyer syndrome results from complete loss of spartin protein rather than from the predicted partly functional fragment. This may reflect increased protein degradation or impaired translation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.