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000273946 0247_ $$2ISSN$$a1432-1459
000273946 037__ $$aDZNE-2024-01420
000273946 041__ $$aEnglish
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000273946 1001_ $$0P:(DE-2719)9001258$$aElter, Tim-Lukas$$b0$$eFirst author$$udzne
000273946 245__ $$aRegional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
000273946 260__ $$aHeidelberg$$bSpringer$$c2025
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000273946 520__ $$aKnowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.The genotypes of the two polymorphisms at base pair positions 987 and 1118 of the ATXN3 were determined for their co-localization on the normal and expanded allele, respectively, in 286 SCA3 mutation carriers and 117 healthy controls from 11 European sites.The distribution of genotypes on the expanded allele differed from those of the wildtype allele of SCA3 mutation carriers and of healthy controls, and was mainly influenced by the regional origin. In our cohort, no particular clinical phenotype was associated with any specific haplotype.Our results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies.
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000273946 650_7 $$2Other$$aATXN3
000273946 650_7 $$2Other$$aASO
000273946 650_7 $$2Other$$aPolymorphism
000273946 650_7 $$2Other$$aSCA3
000273946 650_7 $$2Other$$aSNP
000273946 650_7 $$2Other$$aSpinocerebellar ataxia
000273946 650_7 $$0EC 3.4.19.12$$2NLM Chemicals$$aAtaxin-3
000273946 650_7 $$0EC 3.4.19.12$$2NLM Chemicals$$aATXN3 protein, human
000273946 650_7 $$2NLM Chemicals$$aNerve Tissue Proteins
000273946 650_7 $$2NLM Chemicals$$aRepressor Proteins
000273946 650_7 $$2NLM Chemicals$$aNuclear Proteins
000273946 650_2 $$2MeSH$$aHumans
000273946 650_2 $$2MeSH$$aMachado-Joseph Disease: genetics
000273946 650_2 $$2MeSH$$aMale
000273946 650_2 $$2MeSH$$aFemale
000273946 650_2 $$2MeSH$$aAtaxin-3: genetics
000273946 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000273946 650_2 $$2MeSH$$aMiddle Aged
000273946 650_2 $$2MeSH$$aAdult
000273946 650_2 $$2MeSH$$aNerve Tissue Proteins: genetics
000273946 650_2 $$2MeSH$$aRepressor Proteins: genetics
000273946 650_2 $$2MeSH$$aAged
000273946 650_2 $$2MeSH$$aGenotype
000273946 650_2 $$2MeSH$$aCohort Studies
000273946 650_2 $$2MeSH$$aNuclear Proteins: genetics
000273946 650_2 $$2MeSH$$aGene Frequency
000273946 650_2 $$2MeSH$$aHaplotypes
000273946 650_2 $$2MeSH$$aYoung Adult
000273946 7001_ $$aSturm, Daniel$$b1
000273946 7001_ $$00000-0003-4076-7516$$aSantana, Magda M$$b2
000273946 7001_ $$0P:(DE-2719)2812594$$aSchaprian, Tamara$$b3$$udzne
000273946 7001_ $$00000-0001-6899-0352$$aRaposo, Mafalda$$b4
000273946 7001_ $$00000-0002-1759-762X$$aMelo, Ana Rosa Vieira$$b5
000273946 7001_ $$00000-0002-3357-3273$$aLima, Manuela$$b6
000273946 7001_ $$0P:(DE-2719)9001550$$aKoyak, Berkan$$b7$$udzne
000273946 7001_ $$0P:(DE-2719)9000685$$aOender, Demet$$b8$$udzne
000273946 7001_ $$0P:(DE-2719)9001510$$aGrobe-Einsler, Marcus$$b9$$udzne
000273946 7001_ $$aLopes, Sara$$b10
000273946 7001_ $$00000-0002-5436-8949$$aSilva, Patrick$$b11
000273946 7001_ $$00000-0001-5831-3307$$ade Almeida, Luís Pereira$$b12
000273946 7001_ $$00000-0003-3508-4788$$aGiunti, Paola$$b13
000273946 7001_ $$aGarcia-Moreno, Hector$$b14
000273946 7001_ $$aNethisinhe, Suran$$b15
000273946 7001_ $$ade Vries, Jeroen$$b16
000273946 7001_ $$avan de Warrenburg, Bart P$$b17
000273946 7001_ $$avan Gaalen, Judith$$b18
000273946 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b19
000273946 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b20$$udzne
000273946 7001_ $$00000-0002-9730-9228$$aReetz, Kathrin$$b21
000273946 7001_ $$aErdlenbruch, Friedrich$$b22
000273946 7001_ $$aJacobi, Heike$$b23
000273946 7001_ $$aInfante, Jon$$b24
000273946 7001_ $$00000-0002-7011-1369$$aRiess, Olaf$$b25
000273946 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b26$$udzne
000273946 7001_ $$agroup, ESMI study$$b27$$eCollaboration Author
000273946 7001_ $$0P:(DE-2719)2811327$$aFaber, Jennifer$$b28$$eLast author
000273946 7001_ $$00000-0002-4973-0923$$aHübener-Schmid, Jeannette$$b29
000273946 7001_ $$aTimmann, Dagmar$$b30$$eContributor
000273946 7001_ $$aThieme, Andreas$$b31$$eContributor
000273946 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-024-12829-9$$gVol. 272, no. 1, p. 54$$n1$$p54$$tJournal of neurology$$v272$$x0367-004X$$y2025
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