Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.

[1]  J. Solowska,et al.  Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin , 2017, Molecular biology of the cell.

[2]  J. Lippincott-Schwartz,et al.  Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia , 2017, The Journal of cell biology.

[3]  L. Maquat,et al.  Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine , 2016, Cell.

[4]  K. Chung,et al.  E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis , 2015, BMC Cancer.

[5]  J. Solowska,et al.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease. , 2015, Brain : a journal of neurology.

[6]  F. Santorelli,et al.  Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms , 2014, Experimental Neurology.

[7]  T. Nam,et al.  Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia , 2014, Journal of clinical neurology.

[8]  F. Gage,et al.  Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons , 2013, Human molecular genetics.

[9]  T. Sun,et al.  MicroRNA function is required for neurite outgrowth of mature neurons in the mouse postnatal cerebral cortex , 2013, Front. Cell. Neurosci..

[10]  J. Hazan,et al.  An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome , 2013, The Journal of cell biology.

[11]  S. D. Santos,et al.  Regulation of synapse composition by protein acetylation: the role of acetylated cortactin , 2013, Journal of Cell Science.

[12]  P. Mailly,et al.  Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice , 2012, Disease Models & Mechanisms.

[13]  A. Lewin,et al.  Gene therapy in animal models of autosomal dominant retinitis pigmentosa , 2012, Molecular vision.

[14]  T. Eckert,et al.  Subunit Interactions and Cooperativity in the Microtubule-severing AAA ATPase Spastin* , 2012, The Journal of Biological Chemistry.

[15]  K. Albers,et al.  Transcriptional and Post-Transcriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia , 2012, PloS one.

[16]  W. Hauswirth,et al.  AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa. , 2011, Human gene therapy.

[17]  D. Gerlich,et al.  Tubulin polyglutamylation stimulates spastin-mediated microtubule severing , 2010, The Journal of cell biology.

[18]  B. André,et al.  The ubiquitin code of yeast permease trafficking. , 2010, Trends in cell biology.

[19]  G. Rouleau,et al.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms , 2009, Nature Reviews Genetics.

[20]  M. Ruberg,et al.  Recent advances in the genetics of spastic paraplegias , 2008, Current neurology and neuroscience reports.

[21]  J. Hauw,et al.  A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. , 2006, Human molecular genetics.

[22]  Won-Kyung Cho,et al.  E2-EPF UCP targets pVHL for degradation and associates with tumor growth and metastasis , 2006, Nature Medicine.

[23]  M. Feany,et al.  Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. , 2005, The Journal of clinical investigation.

[24]  Hee-Jin Kim,et al.  Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. , 2005, Archives of neurology.

[25]  G. Gundersen,et al.  Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing , 2005, The Journal of cell biology.

[26]  C. Sanderson,et al.  The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. , 2005, Human molecular genetics.

[27]  C. Ki,et al.  A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia , 2002, Journal of Human Genetics.

[28]  A. Reis,et al.  Hereditary spastic paraplegia caused by mutations in the SPG4 gene , 2000, European Journal of Human Genetics.

[29]  R. Vale,et al.  Identification of katanin, an ATPase that severs and disassembles stable microtubules , 1993, Cell.