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000136803 0247_ $$2doi$$a10.1016/j.ajhg.2012.11.021
000136803 0247_ $$2pmid$$apmid:23332916
000136803 0247_ $$2pmc$$apmc:PMC3567271
000136803 0247_ $$2ISSN$$a0002-9297
000136803 0247_ $$2ISSN$$a1537-6605
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000136803 037__ $$aDZNE-2020-03125
000136803 041__ $$aEnglish
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000136803 1001_ $$0P:(DE-HGF)0$$aMartin, Elodie$$b0
000136803 245__ $$aLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
000136803 260__ $$aNew York, NY$$bElsevier$$c2013
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000136803 520__ $$aSpastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide and the hydrolysis of bile acid 3-O-glucosides. The missense variant was also found at the homozygous state in a simplex subject in whom no residual glucocerebrosidase activity of GBA2 could be evidenced in blood cells, opening the way to a possible measurement of this enzyme activity in clinical practice. The overall phenotype was a complex HSP with mental impairment, cataract, and hypogonadism in males associated with various degrees of corpus callosum and cerebellar atrophy on brain imaging. Antisense morpholino oligonucleotides targeting the zebrafish GBA2 orthologous gene led to abnormal motor behavior and axonal shortening/branching of motoneurons that were rescued by the human wild-type mRNA but not by applying the same mRNA containing the missense mutation. This study highlights the role of ceramide metabolism in HSP pathology.
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000136803 542__ $$2Crossref$$i2013-02-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000136803 542__ $$2Crossref$$i2013-09-16$$uhttps://www.elsevier.com/open-access/userlicense/1.0/
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000136803 650_7 $$2NLM Chemicals$$aZebrafish Proteins
000136803 650_7 $$0EC 3.2.1.21$$2NLM Chemicals$$abeta-Glucosidase
000136803 650_7 $$0EC 3.2.1.45$$2NLM Chemicals$$aGBA2 protein, human
000136803 650_7 $$0EC 3.2.1.45$$2NLM Chemicals$$aGBA2 protein, zebrafish
000136803 650_2 $$2MeSH$$aAdolescent
000136803 650_2 $$2MeSH$$aAdult
000136803 650_2 $$2MeSH$$aAged
000136803 650_2 $$2MeSH$$aAnimals
000136803 650_2 $$2MeSH$$aBrain: pathology
000136803 650_2 $$2MeSH$$aChild
000136803 650_2 $$2MeSH$$aChild, Preschool
000136803 650_2 $$2MeSH$$aFamily
000136803 650_2 $$2MeSH$$aFemale
000136803 650_2 $$2MeSH$$aHumans
000136803 650_2 $$2MeSH$$aInfant
000136803 650_2 $$2MeSH$$aMale
000136803 650_2 $$2MeSH$$aMiddle Aged
000136803 650_2 $$2MeSH$$aMotor Neurons: pathology
000136803 650_2 $$2MeSH$$aMutation: genetics
000136803 650_2 $$2MeSH$$aNeuroimaging
000136803 650_2 $$2MeSH$$aPedigree
000136803 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: enzymology
000136803 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000136803 650_2 $$2MeSH$$aYoung Adult
000136803 650_2 $$2MeSH$$aZebrafish
000136803 650_2 $$2MeSH$$aZebrafish Proteins: genetics
000136803 650_2 $$2MeSH$$abeta-Glucosidase: genetics
000136803 7001_ $$0P:(DE-HGF)0$$aSchüle, Rebecca$$b1
000136803 7001_ $$0P:(DE-HGF)0$$aSmets, Katrien$$b2
000136803 7001_ $$0P:(DE-HGF)0$$aRastetter, Agnès$$b3
000136803 7001_ $$0P:(DE-HGF)0$$aBoukhris, Amir$$b4
000136803 7001_ $$0P:(DE-HGF)0$$aLoureiro, José L$$b5
000136803 7001_ $$0P:(DE-HGF)0$$aGonzalez, Michael A$$b6
000136803 7001_ $$0P:(DE-HGF)0$$aMundwiller, Emeline$$b7
000136803 7001_ $$0P:(DE-HGF)0$$aDeconinck, Tine$$b8
000136803 7001_ $$0P:(DE-HGF)0$$aWessner, Marc$$b9
000136803 7001_ $$0P:(DE-HGF)0$$aJornea, Ludmila$$b10
000136803 7001_ $$0P:(DE-HGF)0$$aOteyza, Andrés Caballero$$b11
000136803 7001_ $$0P:(DE-HGF)0$$aDurr, Alexandra$$b12
000136803 7001_ $$0P:(DE-HGF)0$$aMartin, Jean-Jacques$$b13
000136803 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b14$$udzne
000136803 7001_ $$0P:(DE-HGF)0$$aMhiri, Chokri$$b15
000136803 7001_ $$0P:(DE-HGF)0$$aLamari, Foudil$$b16
000136803 7001_ $$0P:(DE-HGF)0$$aZüchner, Stephan$$b17
000136803 7001_ $$0P:(DE-HGF)0$$aDe Jonghe, Peter$$b18
000136803 7001_ $$0P:(DE-HGF)0$$aKabashi, Edor$$b19
000136803 7001_ $$0P:(DE-HGF)0$$aBrice, Alexis$$b20$$eCorresponding author
000136803 7001_ $$0P:(DE-HGF)0$$aStevanin, Giovanni$$b21
000136803 77318 $$2Crossref$$3journal-article$$a10.1016/j.ajhg.2012.11.021$$b : Elsevier BV, 2013-02-01$$n2$$p238-244$$tThe American Journal of Human Genetics$$v92$$x0002-9297$$y2013
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