Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Feedback regulation of ubiquitination and phase separation of HECT E3 ligases.
Li J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.
Chung J et al.
Nature Cell Biology, 2023
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
Liang H et al.
Annals of the New York Academy of Sciences, 2020
A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome.
Khoshaeen A et al.
Journal of Genetics, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S et al.
Metabolic Brain Disease, 2017
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Dardour L et al.
Cold Spring Harbor Molecular Case Studies, 2017
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
Spiegel R et al.
Jimd Reports, 2017
Three cases of Troyer syndrome in two families of Filipino descent.
Butler S et al.
American Journal of Medical Genetics. Part A, 2016
Recurrent null mutation in SPG20 leads to Troyer syndrome.
Tawamie H et al.
Molecular and Cellular Probes, 2015
Hereditary spastic paraplegia protein spartin is an FK506-binding protein identified by mRNA display.
Tokunaga M et al.
Chemistry & Biology, 2013
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D et al.
American Journal of Human Genetics, 2012
Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.
Hooper C et al.
Bmc Biology, 2010
Developmental and degenerative features in a complicated spastic paraplegia.
Manzini MC et al.
Annals of Neurology, 2010
Identification of novel spartin-interactors shows spartin is a multifunctional protein.
Milewska M et al.
Journal of Neurochemistry, 2009
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
Bakowska JC et al.
Archives of Neurology, 2008
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.
Robay D et al.
Experimental Cell Research, 2006
The hereditary spastic paraplegia protein spartin localises to mitochondria.
Lu J et al.
Journal of Neurochemistry, 2006
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
Proukakis C et al.
Journal of Neurology, 2004
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel H et al.
Nature Genetics, 2002