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protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

Known as: POMGnT1 
National Institutes of Health

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Broader (1)

N-Acetylglucosaminyltransferases
POMGNT1 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
PURPOSE To identify the genetic cause in five families with autosomal recessive retinitis pigmentosa, a genetic disorder… 
2016
2016
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
A growing number of human diseases have been linked to defects in protein glycosylation that affects a wide range of organs… 
2014
2014
Golgi Phosphoprotein 3 Mediates the Golgi Localization and Function of Protein O-Linked Mannose β-1,2-N-Acetlyglucosaminyltransferase 1*
Background: The role of GOLPH3 in mammalian glycosylation is not well studied. Results: GOLPH3 binds to and controls the Golgi… 
2012
2012
RPTPζ/phosphacan is abnormally glycosylated in a model of muscle–eye–brain disease lacking functional POMGnT1
2012
2012
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O
Limb-girdle muscular dystrophy type 2O (LGMD2O) belongs to a group of rare muscular dystrophies named dystroglycanopathies, which… 
2008
2008
Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
2007
2007
[Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin].
Fukuyama type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an… 
Highly Cited
2007
Highly Cited
2007
Molecular heterogeneity in fetal forms of type II lissencephaly
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with… 
2005
2005
[Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].
Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are similar… 
Review
2004
Review
2004
Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin
Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker–Warburg syndrome (WWS) are… 
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