Is the transportation highway the right road for hereditary spastic paraplegia? - Wikidata - awgldk - TriplyDB

Is the transportation highway the right road for hereditary spastic paraplegia?

Is the transportation highway the right road for hereditary spastic paraplegia?

http://www.wikidata.org/entity/Q34923057

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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 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 mechanism Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia.Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.Control of mitochondrial integrity in ageing and disease Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia.Genetic and phenotypic characterization of complex hereditary spastic paraplegia SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Axonal transport defects in neurodegenerative diseases.Dysregulation of axonal transport and motorneuron diseases.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.The extent of axonal loss in the long tracts in hereditary spastic paraplegia.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

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Is the transportation highway the right road for hereditary spastic paraplegia?

http://www.wikidata.org/entity/Q34923057

description

2002 nî lūn-bûn

@nan

2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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type

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Is the transportation highway the right road for hereditary spastic paraplegia?

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American Journal of Human Genetics

P1476

Is the transportation highway the right road for hereditary spastic paraplegia?

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Andrew H Crosby

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P2860

ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking

Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Strümpell's familial spastic paraplegia: genetics and neuropathology

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1009-1016

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Christos Proukakis

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