Gene Symbol: Pomgnt1
Description: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Alias: protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, O-linked mannose beta1,2-N-acetylglucosaminyltransferase, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
- Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida
Central Laboratories for Key Technology, Kirin Brewery Co, Ltd, Kanazawa Ku, 236 0004, Yokohama, Japan
Dev Cell 1:717-24. 2001..Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis...
- POMGnT1 gene alterations in a family with neurological abnormalitiesVirginie S Vervoort
J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
Ann Neurol 56:143-8. 2004Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays...
- POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy
Arch Neurol 63:1491-5. 2006Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.
- Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet
Assistance Publique Hopitaux de Paris APHP, Bichat Claude Bernard Hospital, Biochimie Métabolique, Paris, France
Hum Mutat 28:1020-7. 2007..allowed the molecular diagnosis in 22 families: involvement of POMT1 was demonstrated in 32% of cases, whereas POMGNT1 and POMT2 were incriminated in 15% and in 7% of cases, respectively...
- Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophiesJing Li
Department of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY 13210, USA
Neurosci Lett 505:19-24. 2011..There are good mouse models for these CMDs that include POMGnT1 knockout, POMT2 knockout and Large(myd) mice with all exhibiting defects in dentate gyrus...
- Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseS Saredi
Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C Besta, Milano, Italy
J Neurol Sci 318:45-50. 2012..Mutations in genes coding for proven or putative glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, and LARGE), the DPM3 gene encoding a DOL-P-Man synthase subunit, and the DAG1 gene encoding α-..
- Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patientsHui Jiao
Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China
Mol Genet Genomics 288:297-308. 2013..Four candidate genes (POMGnT1, FKRP, FKTN and POMT2) were screened, and six POMGnT1 mutations (four novel) were identified, including five ..