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GNPTAB gene

Known as: MGC4170, GNPTAB, GNPTA 
National Institutes of Health

Papers overview

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2019
2019
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum
Significance Stuttering is a common neurodevelopmental disorder. However, the neurological causes of this disorder are poorly… 
2018
2018
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
BackgroundMucolipidosis II (ML II; I-cell disease) is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (GNPTAB… 
2018
2018
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
2016
2016
Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis…
2015
2015
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
BackgroundDyslexia is a polygenic speech and language disorder characterized by an unexpected difficulty in reading in children… 
2015
2015
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
Dyslexia is a polygenic speech and language disorder characterized by an unexpected difficulty in reading in children and adults… 
2015
2015
Analysis of novel pathways in neurodegeneration using mouse and fly model organisms
The aim of this project was to understand the molecular mechanisms underlying movement disorders and to identify new genes… 
2014
2014
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering
2007
2007
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.
PURPOSE Mucolipidosis II and III (ML II; ML III) are lysosomal storage diseases characterized by a deficiency in GlcNAc-1… 
Highly Cited
2005
Highly Cited
2005
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase
Mucolipidosis II (ML II) is a fatal lysosomal storage disorder resulting from defects in the multimeric GlcNAc-1… 
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