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Protocols

ALSoD specifications

Information


Unique identifier OMICS_04617
Name ALSoD
Alternative name Amyotrophic Lateral Sclerosis Database
Restrictions to use None
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Ammar Al-Chalabi

Publication for Amyotrophic Lateral Sclerosis Database

ALSoD citations

 (7)
library_books

Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling

2018
BMC Struct Biol
PMCID: 5808480
PMID: 29431095
DOI: 10.1186/s12900-018-0080-9

[…] The study was performed on the wild-type SOD1 and the following 35 mutants taken from the ALSOD database (http://alsod.iop.kcl.ac.uk/): A4V, C6G, V7E, L8Q, G10 V, G12R, F20C, G37R, L38 V, G41D, G41S, H43R, H46R, H48Q, D76V, L84F, L84 V, G85R, N86 K, A89V, D90A, G93R, E100G, D101N, S105 L, […]

library_books

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

2017
Sci Rep
PMCID: 5577269
PMID: 28855684
DOI: 10.1038/s41598-017-10488-7

[…] e presence of known ALS mutations in aligned RNAseq data using REDItools and did not find any potentially fALS- associated variant in the causative genes annotated in the ALS Online Genetic Database (ALSoD http://alsod.iop.kcl.ac.uk/).We calculated RNAseq based gene expression levels in FPKM and performed unsupervised hierarchical clustering to detect similarities in gene expression profiles betwe […]

call_split

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

2017
PMCID: 5511806
PMID: 28717666
DOI: 10.1002/mgg3.302
call_split See protocol

[…] rmation). Briefly, known variants and relevant genes were compiled from two databases, the human gene mutation database (HGMD) (Stenson et al. ) and the amyotrophic lateral sclerosis online database (ALSoD) (Abel et al. ). This consisted of three reference lists to examine patient exomes for known variants or novel variants in relevant genes (Fig. ; Table ), these lists were: Variants associated w […]

library_books

Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case control study and literature review

2017
Sci Rep
PMCID: 5349524
PMID: 28291249
DOI: 10.1038/srep44606

[…] are required to clarify the pathogenic effects of these mutations.Currently, the best-studied mechanism for ALS involves SOD1, and more than 170 missense mutations have been reported in SOD1 (http://alsod.iop.kcl.ac.uk) to date. SOD1 mutations can give rise to almost all described clinical ALS phenotypes, such as progressive muscular atrophy and bulbar palsy, but no clear correlations between the […]

library_books

RNAseq Analyses Identify Tumor Necrosis Factor Mediated Inflammation as a Major Abnormality in ALS Spinal Cord

2016
PLoS One
PMCID: 4972368
PMID: 27487029
DOI: 10.1371/journal.pone.0160520

[…] exon boundaries. We next checked whether any of the remaining variants corresponded to one of the “pathogenic” ALS mutations catalogued in at least one of three databases queried (the databank http://alsod.iop.kcl.ac.uk/Statistics/pathogenicity.aspx referenced in [, , ]).An example of the GATK pipeline commands used for each sample can be found in . […]

library_books

Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

2014
PLoS Genet
PMCID: 4191946
PMID: 25299611
DOI: 10.1371/journal.pgen.1004704

[…] ray.chem.agilent.com/suredesign/), a HaloPlex custom kit (Agilent, Santa Clara, CA, https://www.agilent.com) was designed to include all exons of target genes previously linked with ALS and listed in ALSoD (http://alsod.iop.kcl.ac.uk/) (associated and known ALS categories), candidates genes from our previous study using ALS Trios (trio category), and finally RRM genes harboring a high prion scor […]

Citations

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ALSoD institution(s)
Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, London, UK

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