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@ARTICLE{Wst:138401,
      author       = {Wüst, Richard and Maurer, Brigitte and Hauser, Kathrin and
                      Woitalla, Dirk and Sharma, Manu and Krüger, Rejko},
      title        = {{M}utation analyses and association studies to assess the
                      role of the presenilin-associated rhomboid-like gene in
                      {P}arkinson's disease.},
      journal      = {Neurobiology of aging},
      volume       = {39},
      issn         = {0197-4580},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2020-04723},
      pages        = {217.e13-217.e15},
      year         = {2016},
      abstract     = {Presenilin-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.},
      keywords     = {DNA Mutational Analysis / Female / Genetic Association
                      Studies / Genetic Variation / Humans / Male /
                      Metalloproteases: genetics / Metalloproteases: physiology /
                      Mitochondrial Proteins: genetics / Mitochondrial Proteins:
                      physiology / Parkinson Disease: genetics / Polymorphism,
                      Single Nucleotide / Mitochondrial Proteins (NLM Chemicals) /
                      Metalloproteases (NLM Chemicals) / PARL protein, human (NLM
                      Chemicals)},
      cin          = {Ext UKT-Trend / Ext HIH / AG Gasser / Tübingen common},
      ddc          = {610},
      cid          = {I:(DE-2719)5000056 / I:(DE-2719)5000057 /
                      I:(DE-2719)1210000 / I:(DE-2719)6000018},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26778534},
      doi          = {10.1016/j.neurobiolaging.2015.11.025},
      url          = {https://pub.dzne.de/record/138401},
}