Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
about
KATNAL1 regulation of sertoli cell microtubule dynamics is essential for spermiogenesis and male fertilityLinking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severingInteraction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenanceRab18 and a Rab18 GEF complex are required for normal ER structure.Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaRecognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severingHereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretionMutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaNIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.A second leaky splice-site mutation in the spastin geneHereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastinInfantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneUnstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron diseaseMutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisA kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosisMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaDrosophila spastin regulates synaptic microtubule networks and is required for normal motor functionThe Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic ParaplegiasNeurodegeneration and microtubule dynamics: death by a thousand cutsAxonal transport: cargo-specific mechanisms of motility and regulationMembrane-shaping disorders: a common pathway in axon degenerationMicrotubule-severing enzymes at the cutting edgeSPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossThe spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.The Microtubule Regulatory Protein Stathmin Is Required to Maintain the Integrity of Axonal Microtubules in DrosophilaQuantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective SpastinA Common Substrate Recognition Mode Conserved between Katanin p60 and VPS4 Governs Microtubule Severing and Membrane Skeleton ReorganizationStructural Insights into the Unusually Strong ATPase Activity of the AAA Domain of the Caenorhabditis elegans Fidgetin-like 1 (FIGL-1) ProteinHereditary spastic paraplegia SPG4: what is known and not known about the disease.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyThe nucleotide cycle of spastin correlates with its microtubule-binding propertiesAAA+ superfamily ATPases: common structure--diverse functionFurther evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegiaMutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
P2860
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P2860
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@ast
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@en
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@nl
type
label
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@ast
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@en
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@nl
prefLabel
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@ast
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@en
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@nl
P2093
P50
P3181
P356
P1433
P1476
Spastin, a new AAA protein, is ...... al dominant spastic paraplegia
@en
P2093
B Fontaine
C Paternotte
C S Davoine
F Artiguenave
J F Prud'homme
J M Burgunder
P2888
P304
P3181
P356
10.1038/15472
P407
P577
1999-11-01T00:00:00Z
P6179
1019285539