Literature DB >> 21702733

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases.

Christina M Lill1, Olubunmi Abel, Lars Bertram, Ammar Al-Chalabi.   

Abstract

Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous disorder that shows a characteristic dichotomy of familial forms typically displaying Mendelian inheritance patterns, and sporadic ALS showing no or less obvious familial aggregation. While the former is caused by rare, highly penetrant, and pathogenic mutations, risk for sporadic ALS is probably the result of the combined effects of common polymorphisms with minor to moderate effect sizes. Owing to recent advances in high-throughput genotyping and sequencing technologies, genetic research in both fields is evolving at a rapidly increasing pace making it more and more difficult to follow and evaluate the most significant progress in the field. To alleviate this problem, our groups have created dedicated and freely available online databases, ALSoD ( http://alsod.iop.kcl.ac.uk/ ) and ALSGene ( http://www.alsgene.org ), which provide systematic and in-depth qualitative and quantitative overviews of genetic research in both familial and sporadic ALS. This review briefly introduces the background and main features of both databases and provides an overview of the currently most compelling genetic findings in ALS derived from analyses using these resources.

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Year:  2011        PMID: 21702733     DOI: 10.3109/17482968.2011.584629

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN: 1471-180X


  30 in total

1.  The GTPase Rab27b regulates the release, autophagic clearance, and toxicity of α-synuclein.

Authors:  Rachel Underwood; Bing Wang; Christine Carico; Robert H Whitaker; William J Placzek; Talene A Yacoubian
Journal:  J Biol Chem       Date:  2020-04-29       Impact factor: 5.157

2.  The role of solvent exclusion in the interaction between D124 and the metal site in SOD1: implications for ALS.

Authors:  Raúl Mera-Adasme; Carl-Mikael Suomivuori; Angélica Fierro; Janne Pesonen; Dage Sundholm
Journal:  J Biol Inorg Chem       Date:  2013-09-13       Impact factor: 3.358

3.  Polymorphism of rs3737597 in DISC1 Gene on Chromosome 1q42.2 in sALS Patients: a Chinese Han Population Case-Control Study.

Authors:  Libin Deng; Liwei Huo; Jie Zhang; Xiaoli Tang; Zhujun Cheng; Gang Li; Xin Fang; Jinsong Xu; Xiong Zhang; Renshi Xu
Journal:  Mol Neurobiol       Date:  2016-04-07       Impact factor: 5.590

4.  The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.

Authors:  Vivianna M Van Deerlin
Journal:  Acta Neuropathol       Date:  2012-09       Impact factor: 17.088

5.  A theoretical study on Zn binding loop mutants instigating destabilization and metal binding loss in human SOD1 protein.

Authors:  E Srinivasan; Rao Sethumadhavan; R Rajasekaran
Journal:  J Mol Model       Date:  2017-03-07       Impact factor: 1.810

Review 6.  FTIR spectroscopic imaging of protein aggregation in living cells.

Authors:  Lisa M Miller; Megan W Bourassa; Randy J Smith
Journal:  Biochim Biophys Acta       Date:  2013-01-25

7.  A public resource facilitating clinical use of genomes.

Authors:  Madeleine P Ball; Joseph V Thakuria; Alexander Wait Zaranek; Tom Clegg; Abraham M Rosenbaum; Xiaodi Wu; Misha Angrist; Jong Bhak; Jason Bobe; Matthew J Callow; Carlos Cano; Michael F Chou; Wendy K Chung; Shawn M Douglas; Preston W Estep; Athurva Gore; Peter Hulick; Alberto Labarga; Je-Hyuk Lee; Jeantine E Lunshof; Byung Chul Kim; Jong-Il Kim; Zhe Li; Michael F Murray; Geoffrey B Nilsen; Brock A Peters; Anugraha M Raman; Hugh Y Rienhoff; Kimberly Robasky; Matthew T Wheeler; Ward Vandewege; Daniel B Vorhaus; Joyce L Yang; Luhan Yang; John Aach; Euan A Ashley; Radoje Drmanac; Seong-Jin Kim; Jin Billy Li; Leonid Peshkin; Christine E Seidman; Jeong-Sun Seo; Kun Zhang; Heidi L Rehm; George M Church
Journal:  Proc Natl Acad Sci U S A       Date:  2012-07-13       Impact factor: 11.205

8.  Early steps in thermal unfolding of superoxide dismutase 1 are similar to the conformational changes associated with the ALS-associated A4V mutation.

Authors:  Tom Schmidlin; Ken Ploeger; Amanda L Jonsson; Valerie Daggett
Journal:  Protein Eng Des Sel       Date:  2013-06-19       Impact factor: 1.650

Review 9.  Probing mechanisms that underlie human neurodegenerative diseases in Drosophila.

Authors:  M Jaiswal; H Sandoval; K Zhang; V Bayat; H J Bellen
Journal:  Annu Rev Genet       Date:  2012-09-04       Impact factor: 16.830

10.  Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Authors:  Kreshnik B Ahmeti; Senda Ajroud-Driss; Ammar Al-Chalabi; Peter M Andersen; Jennifer Armstrong; Anne Birve; Hylke M Blauw; Robert H Brown; Lucie Bruijn; Wenjie Chen; Adriano Chio; Mary C Comeau; Simon Cronin; Frank P Diekstra; Athina Soraya Gkazi; Jonathan D Glass; Josh D Grab; Ewout J Groen; Jonathan L Haines; Orla Hardiman; Scott Heller; Jie Huang; Wu-Yen Hung; James M Jaworski; Ashley Jones; Humaira Khan; John E Landers; Carl D Langefeld; P Nigel Leigh; Miranda C Marion; Russell L McLaughlin; Vincent Meininger; Judith Melki; Jack W Miller; Gabriele Mora; Margaret A Pericak-Vance; Evadnie Rampersaud; Wim Robberecht; Laurie P Russell; Francois Salachas; Christiaan G Saris; Aleksey Shatunov; Christopher E Shaw; Nailah Siddique; Teepu Siddique; Bradley N Smith; Robert Sufit; Simon Topp; Bryan J Traynor; Caroline Vance; Philip van Damme; Leonard H van den Berg; Michael A van Es; Paul W van Vught; Jan H Veldink; Yi Yang; J G Zheng
Journal:  Neurobiol Aging       Date:  2012-09-05       Impact factor: 4.673

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