The genetics of hereditary spastic paraplegia and implications for drug therapy.
about
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER networkAtlastin GTPases are required for Golgi apparatus and ER morphogenesis.Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanismREEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.
P2860
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P2860
The genetics of hereditary spastic paraplegia and implications for drug therapy.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The genetics of hereditary spastic paraplegia and implications for drug therapy.
@en
type
label
The genetics of hereditary spastic paraplegia and implications for drug therapy.
@en
prefLabel
The genetics of hereditary spastic paraplegia and implications for drug therapy.
@en
P2860
P1476
The genetics of hereditary spastic paraplegia and implications for drug therapy.
@en
P2860
P304
P356
10.1517/14656566.8.10.1433
P407
P577
2007-07-01T00:00:00Z