2019
DOI: 10.1016/j.celrep.2019.02.006
|View full text |Cite
|
Sign up to set email alerts
|

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Abstract: Highlights d ALS-causing mutations found within the gene encoding the glycosyltransferase GLT8D1 d Five ALS-associated GLT8D1 mutations proximate to the substrate binding site d GLT8D1 mutations exhibit in vitro cytotoxicity and impair enzyme activity d GLT8D1 mutations induce motor deficits in zebrafish consistent with ALS

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

2
68
1

Year Published

2020
2020
2024
2024

Publication Types

Select...
4
1
1

Relationship

0
6

Authors

Journals

citations
Cited by 68 publications
(71 citation statements)
references
References 33 publications
2
68
1
Order By: Relevance
“…The pedigree validation of the fALS patient carrying p.V291I was not available because the patient's affected family member has died. The variant p.G78A co-segregated with ALS between a proband and his mother (PP1); moreover, only mutations in the exon 4 were considered as pathogenic [6] (PM1); furthermore, p.G78A was absent in the East Asian controls (PM2) but altered the amino acid residue at the same position as the variant-p.G78W, which has been reported to be pathogenic by the previous study [6] To further evaluate the accumulated association of the rare variants in GLT8D1 with ALS, we did whole-gene level and exon 4 speci c rare variants burden analyses in sporadic cases. In the whole gene level, together with previous study from China mainland [7], there were totally 4 rare variants (5 alleles) among the 1410 sALS (2820 alleles); while there were 25 variants (54 alleles) ful lled the same criteria among 9766 cases (19532 alleles) in the gnomAD East Asian controls.…”
Section: Resultsmentioning
confidence: 99%
See 4 more Smart Citations
“…The pedigree validation of the fALS patient carrying p.V291I was not available because the patient's affected family member has died. The variant p.G78A co-segregated with ALS between a proband and his mother (PP1); moreover, only mutations in the exon 4 were considered as pathogenic [6] (PM1); furthermore, p.G78A was absent in the East Asian controls (PM2) but altered the amino acid residue at the same position as the variant-p.G78W, which has been reported to be pathogenic by the previous study [6] To further evaluate the accumulated association of the rare variants in GLT8D1 with ALS, we did whole-gene level and exon 4 speci c rare variants burden analyses in sporadic cases. In the whole gene level, together with previous study from China mainland [7], there were totally 4 rare variants (5 alleles) among the 1410 sALS (2820 alleles); while there were 25 variants (54 alleles) ful lled the same criteria among 9766 cases (19532 alleles) in the gnomAD East Asian controls.…”
Section: Resultsmentioning
confidence: 99%
“…In recent years, with the development of gene sequencing methods and bioinformatic tools, an increasing number of novel ALS causative genes have been identi ed. A missense mutation p.R92W located in the exon 4 of glycosyltransfersase 8 domain containing 1 gene (GLT8D1) was found to co-segregate with ALS in an autosomal dominant ALS family [6]. Furthermore, 5 additional rare deleterious mutations in the same exon were also identi ed in 14 ALS cases, which implied that the rare deleterious variants affecting conserved amino acids in exon 4 of GLT8D1 were signi cantly enriched in ALS patients [6].…”
Section: Introductionmentioning
confidence: 98%
See 3 more Smart Citations