Research graph
References from VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance. Local targets link to admitted publications; unresolved targets remain external evidence.
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer
10.3389/fgene.2023.1052383 · 2023 · External reference
10.1016/j.sbi.2023.102600
10.1016/j.sbi.2023.102600 · External reference
Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL
2023 · External reference
10.1038/s41586-021-03819-2
10.1038/s41586-021-03819-2 · External reference
10.1093/nar/gkab1061
10.1093/nar/gkab1061 · External reference
10.1093/nar/gkz972
10.1093/nar/gkz972 · External reference
10.1016/j.ajhg.2018.08.005
10.1016/j.ajhg.2018.08.005 · External reference
10.1016/j.ajhg.2016.08.016
10.1016/j.ajhg.2016.08.016 · External reference
Sanfilippo syndrome: overall review
10.1111/ped.12636 · 2015 · External reference
10.1126/science.adg7492
10.1126/science.adg7492 · External reference
10.1093/nar/gky1016
10.1093/nar/gky1016 · External reference
10.1093/nar/gkac1052
10.1093/nar/gkac1052 · External reference
10.1038/s41586-023-06045-0
10.1038/s41586-023-06045-0 · External reference
10.1038/s41439-022-00222-9
10.1038/s41439-022-00222-9 · External reference
10.1093/nar/gkad989
10.1093/nar/gkad989 · External reference
10.1016/0022-2836(87)90038-6
10.1016/0022-2836(87)90038-6 · External reference
Molecular cloning and characterization of a novel human β1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain
10.1093/glycob/cwl035 · 2006 · External reference
Reduction in brain heparan sulfate with systemic administration of an IgG Trojan Horse-sulfamidase fusion protein in the mucopolysaccharidosis type IIIA mouse
10.1021/acs.molpharmaceut.7b00958 · 2018 · External reference
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)
10.1007/bf01799255 · 1996 · External reference
10.3390/ijms23094591
10.3390/ijms23094591 · External reference
10.1038/s41598-022-14382-9
10.1038/s41598-022-14382-9 · External reference
10.1038/s41594-022-00849-w
10.1038/s41594-022-00849-w · External reference
The impact of rare and low-frequency genetic variants in common disease
10.1186/s13059-017-1212-4 · 2017 · External reference
10.1111/cge.12257
10.1111/cge.12257 · External reference
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset
10.1371/journal.pcbi.1003382 · 2013 · External reference
10.1073/pnas.2002660117
10.1073/pnas.2002660117 · External reference
10.1002/humu.23707
10.1002/humu.23707 · External reference
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome
10.7554/elife.49138 · 2019 · External reference
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations
10.1371/journal.pgen.1006739 · 2017 · External reference
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches
10.1038/s41598-021-04081-2 · 2022 · External reference
On the generalized distance in statistics
1936 · External reference
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
10.1016/j.ajhg.2022.10.013 · 2022 · External reference
10.1038/ng.2892
10.1038/ng.2892 · External reference
10.1107/s1399004714002739
10.1107/s1399004714002739 · External reference
Point mutations destabilizing a precursor protein enhance its post-translational import into mitochondria
10.1002/j.1460-2075.1988.tb02924.x · 1988 · External reference
10.1074/jbc.m116.722587
10.1074/jbc.m116.722587 · External reference
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
10.1186/s13073-022-01082-2 · 2022 · External reference
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
10.1007/s10545-012-9533-7 · 2013 · External reference
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
10.1034/j.1399-0004.2002.610304.x · 2002 · External reference
10.1093/hmg/6.5.787
10.1093/hmg/6.5.787 · External reference
Novel mutations in Sanfilippo A syndrome: implications for enzyme function
10.1093/hmg/6.9.1573 · 1997 · External reference
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
10.1002/(sici)1098-1004(1997)10:6<479::aid-humu10>3.0.co;2-x · 1997 · External reference
Identification of the genetic cause for childhood disintegrative disorder by whole-exome sequencing
10.1007/s12264-017-0119-0 · 2017 · External reference
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
10.1002/humu.20037 · 2004 · External reference
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
10.1136/jmg.37.9.704 · 2000 · External reference
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
10.1002/ana.25069 · 2017 · External reference
Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis
10.1111/j.1651-2227.2008.01153.x · 2009 · External reference
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
10.1007/s10545-005-0601-0 · 2005 · External reference
An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
10.1136/jnnp.73.6.777 · 2002 · External reference
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
10.1002/(sici)1098-1004(1998)11:4<313::aid-humu9>3.0.co;2-p · 1998 · External reference
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations
10.1002/ana.22092 · 2010 · External reference
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
10.1002/humu.20738 · 2008 · External reference
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA
2006 · External reference
