Literature DB >> 33600908

Investigating ELOVL7 coding variants in multiple system atrophy.

Anna I Wernick1, Ronald L Walton2, Alexandra I Soto-Beasley2, Shunsuke Koga2, Yingxue Ren3, Michael G Heckman4, Lukasz M Milanowski5, Rebecca R Valentino2, Naveen Kondru2, Ryan J Uitti6, William P Cheshire6, Zbigniew K Wszolek6, Dennis W Dickson2, Owen A Ross7.   

Abstract

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.
Copyright © 2021 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  ELOVL7; Genetics; Lipids; Multiple system atrophy; Synucleinopathy

Mesh：

Substances：

Year:  2021        PMID： 33600908      PMCID： PMC7983070          DOI： 10.1016/j.neulet.2021.135723

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN： 0304-3940            Impact factor:   3.046


  19 in total

1.  Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy.

Authors:  J Q Trojanowski; T Revesz
Journal:  Neuropathol Appl Neurobiol       Date:  2007-12       Impact factor: 8.090

Review 2.  The neuropathology of multiple system atrophy and its therapeutic implications.

Authors:  Elvira Valera; Eliezer Masliah
Journal:  Auton Neurosci       Date:  2017-11-10       Impact factor: 3.145

3.  A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Authors:  Kokoro Ozaki; Hiroshi Doi; Jun Mitsui; Nozomu Sato; Yoichiro Iikuni; Takamasa Majima; Kiyomi Yamane; Takashi Irioka; Hiroyuki Ishiura; Koichiro Doi; Shinichi Morishita; Miwa Higashi; Teruhiko Sekiguchi; Kazuo Koyama; Naohisa Ueda; Yoshiharu Miura; Satoko Miyatake; Naomichi Matsumoto; Takanori Yokota; Fumiaki Tanaka; Shoji Tsuji; Hidehiro Mizusawa; Kinya Ishikawa
Journal:  JAMA Neurol       Date:  2015-07       Impact factor: 18.302

4.  Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

Authors:  Mike A Nalls; Cornelis Blauwendraat; Costanza L Vallerga; Karl Heilbron; Sara Bandres-Ciga; Diana Chang; Manuela Tan; Demis A Kia; Alastair J Noyce; Angli Xue; Jose Bras; Emily Young; Rainer von Coelln; Javier Simón-Sánchez; Claudia Schulte; Manu Sharma; Lynne Krohn; Lasse Pihlstrøm; Ari Siitonen; Hirotaka Iwaki; Hampton Leonard; Faraz Faghri; J Raphael Gibbs; Dena G Hernandez; Sonja W Scholz; Juan A Botia; Maria Martinez; Jean-Christophe Corvol; Suzanne Lesage; Joseph Jankovic; Lisa M Shulman; Margaret Sutherland; Pentti Tienari; Kari Majamaa; Mathias Toft; Ole A Andreassen; Tushar Bangale; Alexis Brice; Jian Yang; Ziv Gan-Or; Thomas Gasser; Peter Heutink; Joshua M Shulman; Nicholas W Wood; David A Hinds; John A Hardy; Huw R Morris; Jacob Gratten; Peter M Visscher; Robert R Graham; Andrew B Singleton
Journal:  Lancet Neurol       Date:  2019-12       Impact factor: 44.182

5.  ELOVL5 mutations cause spinocerebellar ataxia 38.

Authors:  Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Marta Ferrero; Nicola Lo Buono; Neftj Ragusa; Cecilia Mancini; Marion Gaussen; Alessandro Calcia; Nico Mitro; Eriola Hoxha; Isabella Mura; Domenico A Coviello; Young-Ah Moon; Christelle Tesson; Giovanna Vaula; Philippe Couarch; Laura Orsi; Eleonora Duregon; Mauro Giulio Papotti; Jean-François Deleuze; Jean Imbert; Chiara Costanzi; Alessandro Padovani; Paola Giunti; Marcel Maillet-Vioud; Alexandra Durr; Alexis Brice; Filippo Tempia; Ada Funaro; Loredana Boccone; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
Journal:  Am J Hum Genet       Date:  2014-07-24       Impact factor: 11.025

Review 6.  Lipid dysfunction and pathogenesis of multiple system atrophy.

Authors:  Jonathan M Bleasel; Joanna H Wong; Glenda M Halliday; Woojin Scott Kim
Journal:  Acta Neuropathol Commun       Date:  2014-02-07       Impact factor: 7.801

7.  Fatty acid elongase 7 catalyzes lipidome remodeling essential for human cytomegalovirus replication.

Authors:  John G Purdy; Thomas Shenk; Joshua D Rabinowitz
Journal:  Cell Rep       Date:  2015-02-26       Impact factor: 9.423

8.  Characteristics and utilisation of the Mayo Clinic Biobank, a clinic-based prospective collection in the USA: cohort profile.

Authors:  Janet E Olson; Euijung Ryu; Matthew A Hathcock; Ruchi Gupta; Joshua T Bublitz; Paul Y Takahashi; Suzette J Bielinski; Jennifer L St Sauver; Karen Meagher; Richard R Sharp; Stephen N Thibodeau; Mine Cicek; James R Cerhan
Journal:  BMJ Open       Date:  2019-11-06       Impact factor: 2.692

9.  A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

Authors:  Diana Chang; Mike A Nalls; Ingileif B Hallgrímsdóttir; Julie Hunkapiller; Marcel van der Brug; Fang Cai; Geoffrey A Kerchner; Gai Ayalon; Baris Bingol; Morgan Sheng; David Hinds; Timothy W Behrens; Andrew B Singleton; Tushar R Bhangale; Robert R Graham
Journal:  Nat Genet       Date:  2017-09-11       Impact factor: 38.330

10.  A genome-wide association study in multiple system atrophy.

Authors:  Anna Sailer; Sonja W Scholz; Michael A Nalls; Claudia Schulte; Monica Federoff; T Ryan Price; Andrew Lees; Owen A Ross; Dennis W Dickson; Kin Mok; Niccolo E Mencacci; Lucia Schottlaender; Viorica Chelban; Helen Ling; Sean S O'Sullivan; Nicholas W Wood; Bryan J Traynor; Luigi Ferrucci; Howard J Federoff; Timothy R Mhyre; Huw R Morris; Günther Deuschl; Niall Quinn; Hakan Widner; Alberto Albanese; Jon Infante; Kailash P Bhatia; Werner Poewe; Wolfgang Oertel; Günter U Höglinger; Ullrich Wüllner; Stefano Goldwurm; Maria Teresa Pellecchia; Joaquim Ferreira; Eduardo Tolosa; Bastiaan R Bloem; Olivier Rascol; Wassilios G Meissner; John A Hardy; Tamas Revesz; Janice L Holton; Thomas Gasser; Gregor K Wenning; Andrew B Singleton; Henry Houlden
Journal:  Neurology       Date:  2016-09-14       Impact factor: 9.910
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