Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceHsp27 and axonal growth in adult sensory neurons in vitroFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinA novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyDysfunctions of neuronal and glial intermediate filaments in diseaseExtracellular Release and Signaling by Heat Shock Protein 27: Role in Modifying Vascular InflammationGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityCharcot-Marie-Tooth disease and intracellular trafficHistone deacetylase 6 plays a role as a distinct regulator of diverse cellular processesNeuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesHSPB1 facilitates the formation of non-centrosomal microtubulesKnocking down of heat-shock protein 27 directs differentiation of functional glutamatergic neurons from placenta-derived multipotent cells.ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure.Chaperonopathies: Spotlight on Hereditary Motor NeuropathiesIncreased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathyIdentification of the key structural motifs involved in HspB8/HspB6-Bag3 interactionPituitary adenylate cyclase-activating polypeptide 38-mediated Rin activation requires Src and contributes to the regulation of HSP27 signaling during neuronal differentiationCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyCharcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilamentsA mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth diseaseAggresome formation and neurodegenerative diseases: therapeutic implicationsATP7A-related copper transport diseases-emerging concepts and future trendsActivation of the heat shock response in a primary cellular model of motoneuron neurodegeneration-evidence for neuroprotective and neurotoxic effectsHDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 MutationGenome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targetsCharacterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron DiseasesPhosphorylation-dependent subcellular localization of the small heat shock proteins HspB1/Hsp25 and HspB5/αB-crystallin in cultured hippocampal neuronsRecruitment of phosphorylated small heat shock protein Hsp27 to nuclear speckles without stressAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsHeat shock proteins: cellular and molecular mechanisms in the central nervous system.Behavioral defects in chaperone-deficient Alzheimer's disease model mice.Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.Gamma-synucleinopathy: neurodegeneration associated with overexpression of the mouse protein.Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.Small heat shock proteins Hspb7 and Hspb12 regulate early steps of cardiac morphogenesis.Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.Dimerization is required for GARS-mediated neurotoxicity in dominant CMT diseaseThe genetics of axonal transport and axonal transport disorders
P2860
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P2860
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@ast
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@en
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@nl
type
label
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@ast
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@en
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@nl
prefLabel
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@ast
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@en
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@nl
P2093
P50
P356
P1433
P1476
Mutant small heat-shock protei ...... l hereditary motor neuropathy.
@en
P2093
Alexander Polyakov
Christian Windpassinger
Conrad L Leung
David Hilton-Jones
Elena Dadali
Ines Dierick
Irena Mersiyanova
Jan Gettemans
Jean-Jacques Martin
P2888
P304
P356
10.1038/NG1354
P407
P577
2004-05-02T00:00:00Z