ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia - Wikidata - wikimedia - TriplyDB

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

http://www.wikidata.org/entity/Q34545631

about

The reticulons: a family of proteins with diverse functions CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation Lacritin and other new proteins of the lacrimal functional unit Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Medical genomics: The intricate path from genetic variant identification to clinical interpretation Membrane-shaping disorders: a common pathway in axon degeneration Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia Identification and characterization of a neuron-specific isoform of protrudin Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.Fatty acid synthase cooperates with protrudin to facilitate membrane outgrowth of cellular protrusions Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.Oligomerization of ZFYVE27 (Protrudin) is necessary to promote neurite extension.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish Role of spastin and protrudin in neurite outgrowth.Phosphoinositides differentially regulate protrudin localization through the FYVE domain EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Exome sequencing in undiagnosed inherited and sporadic ataxias Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.The genetics of hereditary spastic paraplegia and implications for drug therapy.Hereditary spastic paraplegias: membrane traffic and the motor pathway.The role of reticulons in neurodegenerative diseases.ER-endosome contact sites: molecular compositions and functions Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.SRRM4-dependent neuron-specific alternative splicing of protrudin transcripts regulates neurite outgrowth.The role of ZFYVE27/protrudin in hereditary spastic paraplegia.Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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P2860

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

http://www.wikidata.org/entity/Q34545631

description

2006 nî lūn-bûn

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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2006年の論文

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

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American Journal of Human Genetics

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ZFYVE27 (SPG33), a novel spast ...... hereditary spastic paraplegia

@en

P2093

Agnieszka Chronowska

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Ashraf U Mannan

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Johann Boehm

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Juergen Neesen

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Philip Krawen

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Simone M Sauter

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Walter Paulus

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Wolfgang Engel

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P2860

Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

EEA1 links PI(3)K function to Rab5 regulation of endosome fusion

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

The VPS4 gene is involved in protein transport out of a yeast pre-vacuolar endosome-like compartment.

FYVE-finger proteins--effectors of an inositol lipid

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

Identification and characterization of RPK118, a novel sphingosine kinase-1-binding protein

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351-357

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10.1086/504927

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2

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79

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2006-06-01T00:00:00Z

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6957841

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16826525

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1559503

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