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SPG20 gene

Known as: SPARTIN, KIAA0610, SPG20 
National Institutes of Health

Related topics

Related topics

2 relations
SPG20 protein, humanTroyer syndrome

Papers overview

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2019
2019
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
Loss‐of‐function mutations in the SPART gene cause Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle… 
2019
2019
Aberrant methylation status of SPG20 promoter in hepatocellular carcinoma: A potential tumor metastasis biomarker.
2016
2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia (HSP) caused by deleterious mutations in the… 
2014
2014
The role of spartin and its novel ubiquitin binding region in DALIS occurrence
Spartin contributes to the formation of dendritic aggresome-like induced structures (DALIS) through a unique ubiquitin-binding… 
2013
2013
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking
2011
2011
SPG20 Protein Spartin Associates with Cardiolipin via Its Plant-Related Senescence Domain and Regulates Mitochondrial Ca2+ Homeostasis
Hereditary spastic paraplegias (HSPs) are a group of neurological disorders characterized clinically by spasticity of lower limbs… 
2006
2006
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.
2005
2005
The Troyer syndrome (SPG20) protein spartin interacts with Eps15.
2004
2004
Troyer syndrome revisited
Abstract.Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary… 
2002
2002
Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia
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