Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
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Lipopolyplex for Therapeutic Gene Delivery and Its Application for the Treatment of Parkinson's DiseaseTau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic ParaplegiaHereditary spastic paraplegia SPG4: what is known and not known about the disease.Normal spastin gene dosage is specifically required for axon regeneration.Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutationsPathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.SPG4 gene promoter regulation via Elk1 transcription factor.Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.SPAST mutations in Australian patients with hereditary spastic paraplegia.BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translationFunctional differences of short and long isoforms of spastin harboring missense mutation
P2860
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P2860
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Evaluation of loss of function ...... hereditary spastic paraplegia.
@en
type
label
Evaluation of loss of function ...... hereditary spastic paraplegia.
@en
prefLabel
Evaluation of loss of function ...... hereditary spastic paraplegia.
@en
P2093
P2860
P356
P1476
Evaluation of loss of function ...... hereditary spastic paraplegia.
@en
P2093
James Y Garbern
Joanna M Solowska
Peter W Baas
P2860
P304
P356
10.1093/HMG/DDQ177
P577
2010-04-29T00:00:00Z