Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
about
The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic studyLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaKlotho-related protein is a novel cytosolic neutral beta-glycosylceramidaseIdentification of the non-lysosomal glucosylceramidase as beta-glucosidase 2Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipidInvolvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formationImpact of glycosylation on the unimpaired functions of the spermReducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C MicePharmacological inhibition of glucosylceramide synthase enhances insulin sensitivityIminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff diseaseGene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body diseaseVisualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based ProbesSphingomyelin Synthase 1 Is Essential for Male Fertility in MiceDeficiency of Mkrn2 causes abnormal spermiogenesis and spermiation, and impairs male fertility.Phenotyping male infertility in the mouse: how to get the most out of a 'non-performer'Male infertility caused by spermiogenic defects: lessons from gene knockouts.Atg7 is required for acrosome biogenesis during spermatogenesis in miceAnalysis of male reproductive parameters in a murine model of mucopolysaccharidosis type I (MPS I).Multi-system disorders of glycosphingolipid and ganglioside metabolismThe testicular and epididymal expression profile of PLCζ in mouse and human does not support its role as a sperm-borne oocyte activating factor.Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.Transient scrotal hyperthermia induces lipid droplet accumulation and reveals a different ADFP expression pattern between the testes and liver in mice.Expression and crystallization of a bacterial glycoside hydrolase family 116 β-glucosidase from Thermoanaerobacterium xylanolyticumBiomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.Shaping the sperm head: an ER enzyme leaves its mark.Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.Ganglioside biochemistrySynthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors.AMP-activated Protein Kinase Suppresses Biosynthesis of Glucosylceramide by Reducing Intracellular Sugar Nucleotides.Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.Impact of sphingomyelin synthase 1 deficiency on sphingolipid metabolism and atherosclerosis in mice.Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansThe non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.Candidate genes for plasma triglyceride, FFA, and glucose revealed from an intercross between inbred mouse strains NZB/B1NJ and NZW/LacJBiogenesis of sperm acrosome is regulated by pre-mRNA alternative splicing of Acrbp in the mouse.Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.
P2860
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P2860
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
name
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@ast
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@en
type
label
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@ast
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@en
prefLabel
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@ast
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@en
P2093
P2860
P921
P356
P1476
Mutation of beta-glucosidase 2 ...... se and impaired male fertility
@en
P2093
Bonne Thompson
Denise M O Ramirez
F Kent Hamra
Heidrun Matern
Jeremy C Allegood
Rebekkah L Warren
Robert E Hammer
Siegfried Matern
Yildiz Yildiz
P2860
P304
P356
10.1172/JCI29224
P407
P577
2006-11-01T00:00:00Z