Literature DB >> 32740728

Genetics of synucleins in neurodegenerative diseases.

José Brás1,2, Elizabeth Gibbons3, Rita Guerreiro3,4.   

Abstract

The SNCA locus currently has an indisputable role in Parkinson's disease and other synucleinopathies. The role of genetic variability in the other members of the synuclein family (SNCB and SNCG) in disease is far less clear. In this review, we critically assess the pathogenicity, main characteristics, and roles of genetic variants in these genes reported to be causative of synucleinopathies. We also summarize the different association signals identified in the SNCA locus that have been associated with risk for disease. We take a bird's eye view of the variability currently reported in the general population for the three genes and use these data to infer on the potential relationship between each of the genes and human disease.

Entities:  

Keywords:  Genetics; SNCA; SNCB; SNCG; Synuclein; Synucleinopathies

Year:  2020        PMID： 32740728     DOI： 10.1007/s00401-020-02202-1

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


  136 in total

1.  Alpha-Synuclein Expression Restricts RNA Viral Infections in the Brain.

Authors:  Erica L Beatman; Aaron Massey; Katherine D Shives; Kristina S Burrack; Mastooreh Chamanian; Thomas E Morrison; J David Beckham
Journal:  J Virol       Date:  2015-12-30       Impact factor: 5.103

Review 2.  Gamma-synuclein and the progression of cancer.

Authors:  Mushfika Ahmad; Samir Attoub; Maneesh N Singh; Francis L Martin; Omar M A El-Agnaf
Journal:  FASEB J       Date:  2007-06-12       Impact factor: 5.191

3.  A variable poly-T sequence modulates alpha-synuclein isoform expression and is associated with aging.

Authors:  Katrin Beyer; Jordi Humbert; Anna Ferrer; José I Lao; Pilar Latorre; Dolores Lopez; Eduard Tolosa; Isidro Ferrer; Aurelio Ariza
Journal:  J Neurosci Res       Date:  2007-05-15       Impact factor: 4.164

4.  The contribution of apolipoprotein E alleles on cognitive performance and dynamic neural activity over six decades.

Authors:  D M Alexander; L M Williams; J M Gatt; C Dobson-Stone; S A Kuan; E G Todd; P R Schofield; N J Cooper; E Gordon
Journal:  Biol Psychol       Date:  2007-03-16       Impact factor: 3.251

5.  Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Authors:  Silke Appel-Cresswell; Carles Vilarino-Guell; Mary Encarnacion; Holly Sherman; Irene Yu; Brinda Shah; David Weir; Christina Thompson; Chelsea Szu-Tu; Joanne Trinh; Jan O Aasly; Alex Rajput; Ali H Rajput; A Jon Stoessl; Matthew J Farrer
Journal:  Mov Disord       Date:  2013-03-01       Impact factor: 10.338

6.  Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

Authors:  Cornelis Blauwendraat; Karl Heilbron; Costanza L Vallerga; Sara Bandres-Ciga; Rainer von Coelln; Lasse Pihlstrøm; Javier Simón-Sánchez; Claudia Schulte; Manu Sharma; Lynne Krohn; Ari Siitonen; Hirotaka Iwaki; Hampton Leonard; Alastair J Noyce; Manuela Tan; J Raphael Gibbs; Dena G Hernandez; Sonja W Scholz; Joseph Jankovic; Lisa M Shulman; Suzanne Lesage; Jean-Christophe Corvol; Alexis Brice; Jacobus J van Hilten; Johan Marinus; Johanna Eerola-Rautio; Pentti Tienari; Kari Majamaa; Mathias Toft; Donald G Grosset; Thomas Gasser; Peter Heutink; Joshua M Shulman; Nicolas Wood; John Hardy; Huw R Morris; David A Hinds; Jacob Gratten; Peter M Visscher; Ziv Gan-Or; Mike A Nalls; Andrew B Singleton
Journal:  Mov Disord       Date:  2019-04-07       Impact factor: 10.338

7.  Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

Authors:  Gary W Beecham; Kara Hamilton; Adam C Naj; Eden R Martin; Matt Huentelman; Amanda J Myers; Jason J Corneveaux; John Hardy; Jean-Paul Vonsattel; Steven G Younkin; David A Bennett; Philip L De Jager; Eric B Larson; Paul K Crane; M Ilyas Kamboh; Julia K Kofler; Deborah C Mash; Linda Duque; John R Gilbert; Harry Gwirtsman; Joseph D Buxbaum; Patricia Kramer; Dennis W Dickson; Lindsay A Farrer; Matthew P Frosch; Bernardino Ghetti; Jonathan L Haines; Bradley T Hyman; Walter A Kukull; Richard P Mayeux; Margaret A Pericak-Vance; Julie A Schneider; John Q Trojanowski; Eric M Reiman; Gerard D Schellenberg; Thomas J Montine
Journal:  PLoS Genet       Date:  2014-09-04       Impact factor: 5.917

8.  A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.

Authors:  Adam Book; Ilaria Guella; Tara Candido; Alexis Brice; Nobutaka Hattori; Beomseok Jeon; Matthew J Farrer
Journal:  Front Neurol       Date:  2018-12-11       Impact factor: 4.003

9.  Infection with mosquito-borne alphavirus induces selective loss of dopaminergic neurons, neuroinflammation and widespread protein aggregation.

Authors:  Collin M Bantle; Aaron T Phillips; Richard J Smeyne; Savannah M Rocha; Ken E Olson; Ronald B Tjalkens
Journal:  NPJ Parkinsons Dis       Date:  2019-09-13

10.  Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Authors:  Ammar Al-Chalabi; Alexandra Dürr; Nicholas W Wood; Michael H Parkinson; Agnes Camuzat; Jean-Sébastien Hulot; Karen E Morrison; Alan Renton; Sigurd D Sussmuth; Bernhard G Landwehrmeyer; Albert Ludolph; Yves Agid; Alexis Brice; P Nigel Leigh; Gilbert Bensimon
Journal:  PLoS One       Date:  2009-09-22       Impact factor: 3.240
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  2 in total

1.  Emerging concepts in synucleinopathies.

Authors:  Tiago Fleming Outeiro
Journal:  Acta Neuropathol       Date:  2021-02-24       Impact factor: 17.088

2.  Paracrine Interleukin 6 Induces Cerebral Remodeling at Early Stages After Unilateral Common Carotid Artery Occlusion in Mice.

Authors:  Melanie T C Kuffner; Stefan P Koch; Marieluise Kirchner; Susanne Mueller; Janet Lips; Jeehye An; Philipp Mertins; Ulrich Dirnagl; Matthias Endres; Philipp Boehm-Sturm; Christoph Harms; Christian J Hoffmann
Journal:  Front Cardiovasc Med       Date:  2022-01-27
  2 in total

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