Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
about
Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkersMyelin damage and repair in pathologic CNS: challenges and prospectsAxonal transport: cargo-specific mechanisms of motility and regulationWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesSpastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP modelSpastin's microtubule-binding properties and comparison to kataninDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyThe vertebrate-specific Kinesin-6, Kif20b, is required for normal cytokinesis of polarized cortical stem cells and cerebral cortex sizeMutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.Three routes to suppression of the neurodegenerative phenotypes caused by kinesin heavy chain mutationsA hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transportKinesin Motor Enzymology: Chemistry, Structure, and Physics of Nanoscale Molecular MachinesMotor protein mutations cause a new form of hereditary spastic paraplegiaRetrograde axonal transport: pathways to cell death?Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Computer simulation of assembly and co-operativity of hexameric AAA ATPasesConserved mechanisms of microtubule-stimulated ADP release, ATP binding, and force generation in transport kinesins.Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.Mitochondria: the next (neurode)generationProgressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESAction in the axon: generation and transport of signaling endosomes.Energetics of kinesin-1 stepping mechanism.HIV Glycoprotein Gp120 Impairs Fast Axonal Transport by Activating Tak1 Signaling Pathways.Hereditary spastic paraplegias: membrane traffic and the motor pathway.Dysregulation of axonal transport and motorneuron diseases.Review: The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis.Cellular pathways of hereditary spastic paraplegia.Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia.Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?KIF5A transports collagen vesicles of myofibroblasts during pleural fibrosis.Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin.Kar3Vik1 mechanochemistry is inhibited by mutation or deletion of the C terminus of the Vik1 subunit.Axonal transport deficit in a KIF5A( -/- ) mouse model.Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
P2860
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P2860
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@ast
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@en
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@nl
type
label
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@ast
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@en
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@nl
prefLabel
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@ast
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@en
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@nl
P2093
P2860
P50
P356
P1476
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
@en
P2093
Bettina Ebbing
Günther Woehlke
Johann Jaud
Klaudiusz Mann
P2860
P304
P356
10.1093/HMG/DDN014
P577
2008-01-18T00:00:00Z