Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. - Wikidata - awgldk - TriplyDB

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

http://www.wikidata.org/entity/Q37708363

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hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicine Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia Hereditary spastic paraplegia SPG4: what is known and not known about the disease.Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development.Clinical Trials in a Dish: The Potential of Pluripotent Stem Cells to Develop Therapies for Neurodegenerative Diseases.Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model.Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination.Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Pattern of Functional TTX-Resistant Sodium Channels Reveals a Developmental Stage of Human iPSC- and ESC-Derived Nociceptors Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.Alpha-synuclein prevents the formation of spherical mitochondria and apoptosis under oxidative stress Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Kdm6b and Pmepa1 as Targets of Bioelectrically and Behaviorally Induced Activin A Signaling.Insulin-like growth factor-1 regulation of retinal progenitor cell proliferation and differentiation.Re-engineered RNA-Guided FokI-Nucleases for Improved Genome Editing in Human Cells.Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Sporadic Parkinson's disease derived neuronal cells show disease-specific mRNA and small RNA signatures with abundant deregulation of piRNAs.Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation Functional differences of short and long isoforms of spastin harboring missense mutation

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P2860

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

http://www.wikidata.org/entity/Q37708363

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 30 December 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@en

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@nl

type

label

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@en

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@nl

prefLabel

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@en

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

@nl

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Human Molecular Genetics

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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

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Esther Eberhardt

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Fred H Gage

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Himanshu K Mishra

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Holger Wend

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Jürgen Winkler

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Maria C N Marchetto

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Naime Denguir

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Sonja Plötz

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Steven Havlicek

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Teja W Groemer

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P2860

Structural basis of semaphorin-plexin signalling

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

An essential role for katanin in severing microtubules in the neuron

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo

Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules

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2527-2541

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scholarly article

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10.1093/HMG/DDT644

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10

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23

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Heinrich Sticht

Angelika Lampert

Ursula Schlötzer-Schrehardt

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2013-12-30T00:00:00Z

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259530418

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