KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
about
Axonal transport: cargo-specific mechanisms of motility and regulationAxonal transport disruption in peripheral nerve disease: From Jack's discoveries as a resident to recent contributionsWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesThe vesicle protein SAM-4 regulates the processivity of synaptic vesicle transportAn Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog BreedDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyThe kinesin-3, unc-104 regulates dendrite morphogenesis and synaptic development in Drosophila.Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.Mechanisms of disease in hereditary sensory and autonomic neuropathies.WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityThe use of next-generation sequencing in movement disordersKIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsDominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.Sacral agenesis: a pilot whole exome sequencing and copy number study.KIF1A inhibition immortalizes brain stem cells but blocks BDNF-mediated neuronal migration.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsPATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESSingle-axonal organelle analysis method reveals new protein-motor associationsFrequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortElectrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).Inherited neuropathies: clinical overview and update.Cellular pathways of hereditary spastic paraplegia.Integrated Computational Analysis of Genes Associated with Human Hereditary Insensitivity to Pain. A Drug Repurposing Perspective.Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation.Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseaseRestraint of presynaptic protein levels by Wnd/DLK signaling mediates synaptic defects associated with the kinesin-3 motor Unc-104.De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.WNK1/HSN2 isoform and the regulation of KCC2 activity.
P2860
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P2860
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@ast
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@en
type
label
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@ast
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@en
prefLabel
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@ast
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@en
P2093
P2860
P50
P1476
KIF1A, an axonal transporter o ...... d autonomic neuropathy type 2.
@en
P2093
Daniel Rochefort
Garth A Nicholson
Henry Houlden
Hilde Van Esch
Jean-Baptiste Rivière
Jonathan Baets
Julie Lafontaine
Mary M Reilly
Masoud Shekarabi
Myriam Srour
P2860
P304
P356
10.1016/J.AJHG.2011.06.013
P407
P50
P577
2011-08-04T00:00:00Z