Distal spinal and bulbar muscular atrophy caused by dynactin mutation. - Wikidata - awgldk - TriplyDB

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

http://www.wikidata.org/entity/Q34313883

about

Alzheimer's disease as homeostatic responses to age-related myelin breakdown Interaction of tau protein with the dynactin complex Dominant GDAP1 mutations cause predominantly mild CMT phenotypes Effects of ALS-related SOD1 mutants on dynein- and KIF5-mediated retrograde and anterograde axonal transport Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection Microtubule plus-end tracking proteins in neuronal development Axonal transport disruption in peripheral nerve disease: From Jack's discoveries as a resident to recent contributions The Microtubule Regulatory Protein Stathmin Is Required to Maintain the Integrity of Axonal Microtubules in Drosophila Three-Dimensional Structure of CAP-Gly Domain of Mammalian Dynactin Determined by Magic Angle Spinning NMR Spectroscopy: Conformational Plasticity and Interactions with End-Binding Protein EB1 Autophagy in the Pathogenesis of Disease Distinct functional roles of cytoplasmic dynein defined by the intermediate chain isoforms.Aggresome formation and neurodegenerative diseases: therapeutic implications ATP7A-related copper transport diseases-emerging concepts and future trends Internal dynamics of dynactin CAP-Gly is regulated by microtubules and plus end tracking protein EB1.Establishing a novel knock-in mouse line for studying neuronal cytoplasmic dynein under normal and pathologic conditions A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.Recommendations of the Neurolaryngology Study Group on laryngeal electromyography.Regulation of dynactin through the differential expression of p150Glued isoforms.Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies Normal dynactin complex function during synapse growth in Drosophila requires membrane binding by Arfaptin The genetics of axonal transport and axonal transport disorders Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.Elucidating the genetics and pathology of Perry syndrome.DCTN1 mutations in Perry syndrome.Differential vulnerability of neurons in Huntington's disease: the role of cell type-specific features.Retrograde axonal transport: pathways to cell death?Dynactin is required for transport initiation from the distal axon Unraveling the genetics of distal hereditary motor neuronopathies.Mice with mutation in dynein heavy chain 1 do not share the same tau expression pattern with mice with SOD1-related motor neuron disease A switch in retrograde signaling from survival to stress in rapid-onset neurodegeneration.Amyloid precursor protein cleavage-dependent and -independent axonal degeneration programs share a common nicotinamide mononucleotide adenylyltransferase 1-sensitive pathway.Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron disease Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy Effects of diet on synaptic vesicle release in dynactin complex mutants: a mechanism for improved vitality during motor disease.The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini.Atomic-resolution structure of the CAP-Gly domain of dynactin on polymeric microtubules determined by magic angle spinning NMR spectroscopy.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Alsin and the molecular pathways of amyotrophic lateral sclerosis

P2860

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P2860

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

http://www.wikidata.org/entity/Q34313883

description

2005 nî lūn-bûn

@nan

2005 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2005年の論文

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2005年論文

@yue

2005年論文

@zh-hant

2005年論文

@zh-hk

2005年論文

@zh-mo

2005年論文

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2005年论文

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name

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@ast

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@en

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@nl

type

label

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@ast

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@en

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@nl

prefLabel

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@ast

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@en

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

@nl

P1433

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P2860

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P304

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P31

Q34313883-D818D34C-89B1-40B0-8CF1-6C7738455B7E

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P1433

Annals of Neurology

P1476

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

@en

P2093

Alexander Vortmeyer

http://www.w3.org/2001/XMLSchema#string

Charlotte J Sumner

http://www.w3.org/2001/XMLSchema#string

Eric A Mann

http://www.w3.org/2001/XMLSchema#string

Erika L F Holzbaur

http://www.w3.org/2001/XMLSchema#string

Gwen Wendelschafer-Crabb

http://www.w3.org/2001/XMLSchema#string

Imke Puls

http://www.w3.org/2001/XMLSchema#string

Karen E Wallace

http://www.w3.org/2001/XMLSchema#string

Kenneth H Fischbeck

http://www.w3.org/2001/XMLSchema#string

Kimberly Finnegan

http://www.w3.org/2001/XMLSchema#string

Mary Kay Floeter

http://www.w3.org/2001/XMLSchema#string

P2860

A direct interaction between cytoplasmic dynein and kinesin I may coordinate motor activity

Molecular characterization of the 50-kD subunit of dynactin reveals function for the complex in chromosome alignment and spindle organization during mitosis

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies.

Distal spinal muscular atrophy with vocal cord paralysis

Electrophysiological study of diaphragmatic myoclonus.

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

Toxic proteins in neurodegenerative disease.

Retrograde transport redux.

P304

687-694

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P31

scholarly article

P356

10.1002/ANA.20468

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P433

5

http://www.w3.org/2001/XMLSchema#string

P478

57

http://www.w3.org/2001/XMLSchema#string

P50

Christy L. Ludlow

P577

2005-05-01T00:00:00Z

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P5875

7886273

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P698

15852399

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P932

1351270

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