Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. - Wikidata - awgldk - TriplyDB

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

http://www.wikidata.org/entity/Q30523191

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Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance Inositol lipids: from an archaeal origin to phosphatidylinositol 3,5-bisphosphate faults in human disease Inhibition of PIKfyve by YM-201636 dysregulates autophagy and leads to apoptosis-independent neuronal cell death Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments.Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P Fig4 deficiency: a newly emerged lysosomal storage disorder?The role of lipids in the control of autophagy Phosphatidylinositol 3,5-bisphosphate: regulation of cellular events in space and time.Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.Murine Fig4 is dispensable for muscle development but required for muscle function.RML prions act through Mahogunin and Attractin-independent pathways.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Inositol lipid phosphatases in membrane trafficking and human disease.FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.Phosphatidylinositol-3-phosphate in the regulation of autophagy membrane dynamics.The Lipid Kinase PIKfyve Coordinates the Neutrophil Immune Response through the Activation of the Rac GTPase.ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases.Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System.

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P2860

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

http://www.wikidata.org/entity/Q30523191

description

2012 nî lūn-bûn

@nan

2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

@ast

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

@en

type

label

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

@ast

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

@en

prefLabel

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

@ast

Neuronal expression of Fig4 is ...... spongiform neurodegeneration.

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Human Molecular Genetics

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Neuronal expression of Fig4 is ...... t spongiform neurodegeneration

@en

P2093

A E Grant

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

C J Ferguson

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

J J Dowling

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

J J Winters

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J M Jones

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

Miriam H Meisler

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R J Giger

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P2860

PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocytosed receptors or sorting of procathepsin D by regulating multivesicular body morphogenesis

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Novel PI(4)P 5-kinase homologue, Fab1p, essential for normal vacuole function and morphology in yeast

Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model

Vac7p, a novel vacuolar protein, is required for normal vacuole inheritance and morphology

PIKfyve regulates CaV1.2 degradation and prevents excitotoxic cell death

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Fab1p is essential for PtdIns(3)P 5-kinase activity and the maintenance of vacuolar size and membrane homeostasis

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons

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3525-3534

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10.1093/HMG/DDS179

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16

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21

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224951015

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22581779

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3406753

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