MPS III B
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease.
|
30657762 |
2019 |
Neurodegenerative Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease.
|
30657762 |
2019 |
Pseudo-Hurler Polydystrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.
|
26130485 |
2016 |
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.
|
26130485 |
2016 |
Dyslexia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
|
25643770 |
2015 |
Developmental reading disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.
|
25643770 |
2015 |
Specific language impairment
|
0.010 |
Biomarker
|
disease |
BEFREE |
This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI.
|
24807205 |
2014 |
Familial (FPAH)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering.
|
24807205 |
2014 |
Mucolipidoses
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain.
|
22884963 |
2012 |
Stuttering
|
0.060 |
Biomarker
|
phenotype |
BEFREE |
Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering.
|
26130485 |
2016 |
Stuttering
|
0.060 |
GeneticVariation
|
phenotype |
BEFREE |
Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.
|
25643770 |
2015 |
Stuttering
|
0.060 |
Biomarker
|
phenotype |
BEFREE |
We found that the μ4 subunit of AP-4 interacts with NAGPA, an enzyme involved in the synthesis of the mannose 6-phosphate signal that targets acid hydrolases to the lysosome and the product of a gene previously associated with stuttering.
|
26544806 |
2015 |
Stuttering
|
0.060 |
Biomarker
|
phenotype |
BEFREE |
This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering.
|
24807205 |
2014 |
Stuttering
|
0.060 |
GeneticVariation
|
phenotype |
BEFREE |
Surprisingly, the first variant genes to be associated with stuttering are those encoding the lysosomal targeting system, GNPTAB, GNPTG, and NAGPA.
|
22884963 |
2012 |
Stuttering
|
0.060 |
GeneticVariation
|
phenotype |
BEFREE |
These biochemical findings extend the genetic data implicating mutations in the NAGPA gene in the persistent stuttering phenotype.
|
21956109 |
2011 |
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |