Your browser doesn't support javascript.
loading
Investigating ELOVL7 coding variants in multiple system atrophy.
Wernick, Anna I; Walton, Ronald L; Soto-Beasley, Alexandra I; Koga, Shunsuke; Ren, Yingxue; Heckman, Michael G; Milanowski, Lukasz M; Valentino, Rebecca R; Kondru, Naveen; Uitti, Ryan J; Cheshire, William P; Wszolek, Zbigniew K; Dickson, Dennis W; Ross, Owen A.
Afiliación
  • Wernick AI; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; School of Biological Sciences, University of Manchester, Manchester, UK; Queen Square Institute of Neurology, University College London, London, UK.
  • Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Soto-Beasley AI; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Koga S; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Ren Y; Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL, USA.
  • Heckman MG; Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL, USA.
  • Milanowski LM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Valentino RR; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Kondru N; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Uitti RJ; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Cheshire WP; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
  • Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Mayo Graduate School Neuroscience Track, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.
Neurosci Lett ; 749: 135723, 2021 04 01.
Article en En | MEDLINE | ID: mdl-33600908
Multiple system atrophy (MSA) is a rare sporadic, progressive parkinsonism characterised by autonomic dysfunction. A recent genome-wide association study reported an association at the Elongation of Very Long Fatty Acids Protein 7 (ELOVL7) locus with MSA risk. In the current study four independent and unrelated cohorts were assessed, consisting of pathologically confirmed MSA cases, Parkinson's disease (PD) cases, and two unrelated, healthy control groups. All exons of ELOVL7 were sequenced in pathologically confirmed MSA cases; data for PPMI samples and Biobank controls was extracted from whole genome sequence. Coding variants in ELOVL7 were extremely rare, and we observed no significant association of ELOVL7 coding variants with risk of MSA.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Atrofia de Múltiples Sistemas / Elongasas de Ácidos Grasos Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neurosci Lett Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Atrofia de Múltiples Sistemas / Elongasas de Ácidos Grasos Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neurosci Lett Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda