Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia - Wikidata - wikimedia - TriplyDB

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

http://www.wikidata.org/entity/Q24310003

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ELOVL5 mutations cause spinocerebellar ataxia 38 Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies Expression and crystallization of a bacterial glycoside hydrolase family 116 β-glucosidase from Thermoanaerobacterium xylanolyticum Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.The mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum.Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis Aglycon diversity of brain sterylglucosides: structure determination of cholesteryl- and sitosterylglucoside.Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.The glycosphingolipid hydrolases in the central nervous system.Fishing for causes and cures of motor neuron disorders.Human genetic disorders of sphingolipid biosynthesis.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Emerging therapeutic targets for Gaucher disease.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.A sensitive gel-based method combining distinct cyclophellitol-based probes for the identification of acid/base residues in human retaining β-glucosidases.A novel GBA2 gene missense mutation in spastic ataxia.Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

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Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

http://www.wikidata.org/entity/Q24310003

description

2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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J.AJHG.2012.11.021

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American Journal of Human Genetics

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Loss of function of glucocereb ...... hereditary spastic paraplegia

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Agnès Rastetter

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Amir Boukhris

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Andrés Caballero Oteyza

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Edor Kabashi

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Elodie Martin

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Ludmila Jornea

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Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

Fast and accurate short read alignment with Burrows-Wheeler transform

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Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

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Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

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Peter De Jonghe

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Glucosylceramidase beta 2

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