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000138401 037__ $$aDZNE-2020-04723
000138401 041__ $$aEnglish
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000138401 1001_ $$0P:(DE-HGF)0$$aWüst, Richard$$b0
000138401 245__ $$aMutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease.
000138401 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2016
000138401 264_1 $$2Crossref$$3print$$bElsevier BV$$c2016-03-01
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000138401 520__ $$aPresenilin-associated rhomboid-like (PARL), a serine protease located in the inner mitochondrial membrane, has been shown to genetically interact and process PTEN-induced putative kinase a protein known for its critical role in mitochondrial homeostasis and early-onset forms of Parkinson's disease (PD). The identification of a PD-associated variant in the PARL gene (p.Ser77Asn) led us to assess the relevance of PARL for PD pathogenesis using a mutation screening of the coding sequences and adjacent intronic sequences. We investigated 3 single nucleotide polymorphisms (rs3792589, rs13091, and rs3732581), a synonymous base substitution (Leu79Leu) and the previously described p.Ser77Asn mutation, which were subsequently screened in more than 2000 patients and controls. Not detecting the p.Ser77Asn mutation in our cohort, nor a robust association between variations in the PARL gene and PD, the role of disease causing genetic variants in the PARL gene could not be further substantiated in our samples. Our findings indicate that PARL mutations are a rare cause of PD and genetic variants are neither strong nor common risk factors in PD.
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000138401 650_7 $$2NLM Chemicals$$aMitochondrial Proteins
000138401 650_7 $$0EC 3.4.-$$2NLM Chemicals$$aMetalloproteases
000138401 650_7 $$0EC 3.4.21.105$$2NLM Chemicals$$aPARL protein, human
000138401 650_2 $$2MeSH$$aDNA Mutational Analysis
000138401 650_2 $$2MeSH$$aFemale
000138401 650_2 $$2MeSH$$aGenetic Association Studies
000138401 650_2 $$2MeSH$$aGenetic Variation
000138401 650_2 $$2MeSH$$aHumans
000138401 650_2 $$2MeSH$$aMale
000138401 650_2 $$2MeSH$$aMetalloproteases: genetics
000138401 650_2 $$2MeSH$$aMetalloproteases: physiology
000138401 650_2 $$2MeSH$$aMitochondrial Proteins: genetics
000138401 650_2 $$2MeSH$$aMitochondrial Proteins: physiology
000138401 650_2 $$2MeSH$$aParkinson Disease: genetics
000138401 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000138401 7001_ $$0P:(DE-2719)9000205$$aMaurer, Brigitte$$b1$$udzne
000138401 7001_ $$0P:(DE-2719)2351249$$aHauser, Kathrin$$b2$$udzne
000138401 7001_ $$0P:(DE-HGF)0$$aWoitalla, Dirk$$b3
000138401 7001_ $$0P:(DE-2719)9000296$$aSharma, Manu$$b4$$udzne
000138401 7001_ $$0P:(DE-2719)2811170$$aKrüger, Rejko$$b5$$eLast author$$udzne
000138401 77318 $$2Crossref$$3journal-article$$a10.1016/j.neurobiolaging.2015.11.025$$b : Elsevier BV, 2016-03-01$$p217.e13-217.e15$$tNeurobiology of Aging$$v39$$x0197-4580$$y2016
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