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spastin, SPG4, SPAST
This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: SPG3A, AGE, HAD, ATPase, CAN
Papers using spastin antibodies
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing
Lauring Brett P. et al., In The Journal of Cell Biology, 2002
... Production of recombinant SpastinHeLa mRNA was prepared using the Oligotex kit (QIAGEN).
Papers on spastin
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.
Bolduc et al., Montréal, Canada. In Hum Mol Genet, Feb 2016
Loss-of-function mutation of the SPAST gene, also known as SPG4, is the most common cause of HSP in patients.
Meiotic Clade AAA ATPases: Protein Polymer Disassembly Machines.
Hill et al., Salt Lake City, United States. In J Mol Biol, Dec 2015
UNASSIGNED: Meiotic clade AAA ATPases (ATPases associated with diverse cellular activities), which were initially grouped on the basis of phylogenetic classification of their AAA ATPase cassette, include four relatively well characterized family members, Vps4, spastin, katanin and fidgetin.
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Seong et al., South Korea. In J Neurol Sci, Nov 2015
Spastic paraplegia 4 (SPAST) is the most common type of uncomplicated autosomal dominant HSP (40% of such cases), and spastic paraplegia 3A (ATL1) is the second most common.
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
Zhao et al., China. In J Neurol Sci, Nov 2015
SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene.
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
Houlden et al., Athens, Greece. In Eur J Hum Genet, Oct 2015
Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas SPG11 and CYP7B1 were the most common cause of autosomal recessive HSP.
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Baas et al., Philadelphia, United States. In Brain, Sep 2015
Mutations in the SPAST (previously known as SPG4) gene that encodes the microtubule-severing protein called spastin, are the most common cause of the disease.
Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing.
Stenmark et al., Oslo, Norway. In Nature, Jul 2015
Subsequent association of another ESCRT-III-like protein, IST1, directly recruits the AAA ATPase spastin to sever microtubules.
Emerging microtubule targets in glioma therapy.
Dráber et al., Philadelphia, United States. In Semin Pediatr Neurol, Mar 2015
Special focus is placed on (1) the aberrant overexpression of βIII-tubulin, a survival factor associated with hypoxic tumor microenvironment and dynamic instability of microtubules; (2) the ectopic overexpression of γ-tubulin, which in addition to its conventional role as a microtubule-nucleating protein has recently emerged as a transcription factor interacting with oncogenes and kinases; (3) the microtubule-severing ATPase spastin and its emerging role in cell motility of glioblastoma cells; and (4) the modulating role of posttranslational modifications of tubulin in the context of interaction of microtubules with motor proteins.
Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.
Mandelkow et al., Bonn, Germany. In Mol Neurodegener, 2014
Thus, Tau mediated mislocalization of TTLL6 and spastin activation reveals a pathological gain of function for Tau and spastin in this cellular model system of AD.In contrast, in hereditary spastic paraplegia (HSP) caused by mutations of the gene encoding spastin (spg4 alias SPAST), spastin function in terms of microtubule severing is decreased at least for the gene product of the mutated allele, resulting in overstable microtubules in disease model systems.
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
Jiang et al., Shenyang, China. In Genet Mol Res, 2014
One missense variant (c.1517T>A) and a splice-site mutation (c.1245+1G>A) in SPAST, and two missense variants (c.715C>T, c.1204T>G) in ATL1 were identified.
[Molecular genetics and gene analysis of hereditary spastic paraplegia].
Ishiura, Tokyo, Japan. In Rinsho Shinkeigaku, 2013
SPG4 is the most common form of autosomal dominant HSP worldwide.
Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.
Woehlke et al., München, Germany. In J Biol Chem, 2012
wild type spastin is even more sensitive toward the presence of inactive mutants than in enzymatic assays, suggesting a weak coupling of ATPase and severing activity.
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.
Ng et al., Australia. In Clin Neurophysiol, 2012
Peripheral neuropathy occurs in hereditary spastic paraplegia patients with SPG4 mutations.
Role of spastin and protrudin in neurite outgrowth.
Ma et al., Beijing, China. In J Cell Biochem, 2012
The results suggest that the spinal cord motor neuron axon outgrowth of zebrafish is regulated by the interaction between spastin and protrudin.
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.
Nicholls et al., Pittsburgh, United States. In Plos One, 2011
transcriptional and post-transcriptional regulation of SPAST
Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.
Chen et al., Zhoushan, China. In Eur J Neurol, 2011
We identified seven different spastin mutations in five probands and one sporadic patient with Hereditary spastic paraplegia
Cortical constriction during abscission involves helices of ESCRT-III-dependent filaments.
Gerlich et al., Zürich, Switzerland. In Science, 2011
Simultaneous spastin-mediated removal of underlying microtubules enabled full constriction at the abscission site.
Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin.
Vale et al., San Francisco, United States. In Nature, 2008
X ray structure; data support a model in which spastin pulls the C terminus of tubulin through its central pore, generating a mechanical force that destabilizes tubulin-tubulin interactions within the microtubule lattice
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Crosby et al., London, United Kingdom. In Nat Genet, 2002
Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
Fink et al., Ann Arbor, United States. In Nat Genet, 2001
Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in approximately 42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in approximately 9%).
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