Pomgnt1

Summary

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
Species: rat

Top Publications

  1. ncbi Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
    A Yoshida
    Central Laboratories for Key Technology, Kirin Brewery Co, Ltd, Kanazawa Ku, 236 0004, Yokohama, Japan
    Dev Cell 1:717-24. 2001
  2. ncbi POMGnT1 gene alterations in a family with neurological abnormalities
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Ann Neurol 56:143-8. 2004
  3. ncbi POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy
    Arch Neurol 63:1491-5. 2006
  4. ncbi Molecular heterogeneity in fetal forms of type II lissencephaly
    C Bouchet
    Assistance Publique Hopitaux de Paris APHP, Bichat Claude Bernard Hospital, Biochimie Métabolique, Paris, France
    Hum Mutat 28:1020-7. 2007
  5. pmc Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies
    Jing Li
    Department of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY 13210, USA
    Neurosci Lett 505:19-24. 2011
  6. pmc Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
    S Saredi
    Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C Besta, Milano, Italy
    J Neurol Sci 318:45-50. 2012
  7. doi Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients
    Hui Jiao
    Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China
    Mol Genet Genomics 288:297-308. 2013

Scientific Experts

  • Roberta Biancheri
  • Hui Jiao
  • S Saredi
  • Jing Li
  • C Bouchet
  • Virginie S Vervoort
  • Kazuhiro Kobayashi
  • Xiaoqing Li
  • Hiroshi Manya
  • Jiangxi Xiao
  • Yanling Yang
  • Tamao Endo
  • Yanzhi Zhang
  • Xiru Wu
  • Shuo Wang
  • Tatsushi Toda
  • Hui Xiong
  • C Gandioli
  • E Silvestri
  • M Mora
  • A Ardissone
  • R Rinaldi
  • L Farina
  • A Yoshida
  • C Pantaleoni
  • P Grammatico
  • A Ruggieri
  • E Mottarelli
  • S D'Arrigo
  • L Morandi
  • F Salerno
  • I Moroni
  • Gang Feng
  • Huaiyu Hu
  • Miao Yu
  • Xiaofeng Li
  • A Liprandi
  • D Bonneau
  • B Bessieres-Grattagliano
  • P Loget
  • P Marcorelles
  • N Bigi
  • M Joubert
  • E Alanio
  • D Figarella-Branger
  • P Blanchet
  • B Gasser
  • M Bonnières
  • F Menez
  • S Delahaye
  • N Laurent
  • F Pelluard-Nehme
  • C Fallet-Bianco
  • M Gonzales
  • C Rouleau-Dubois
  • M J Perez
  • F Encha-Razavi
  • J Martinovic
  • F Guimiot
  • D Carles
  • L Devisme
  • D Gaillard
  • S Patrier
  • N Seta
  • S Vuillaumier-Barrot
  • S Triau
  • C Lebizec
  • A Bazin
  • A Laquerriere
  • Kenton R Holden
  • Anand K Srivastava
  • Julianne S Collins
  • Robert A Saul
  • Kennedy C Ukadike
  • T Inazu
  • T Toda
  • K Kobayashi
  • R Herrmann
  • T Voit
  • M Mizuno
  • H Topaloglu
  • H Manya
  • T Endo
  • M Takeuchi
  • H Mitsuhashi
  • K Taniguchi
  • V Straub
  • B Talim
  • S Takahashi
  • H Kano

Detail Information

Publications7

  1. ncbi Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
    A 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...
  2. ncbi POMGnT1 gene alterations in a family with neurological abnormalities
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Ann Neurol 56:143-8. 2004
    Muscle-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...
  3. ncbi POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy
    Arch Neurol 63:1491-5. 2006
    Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.
  4. ncbi Molecular heterogeneity in fetal forms of type II lissencephaly
    C 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...
  5. pmc Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies
    Jing 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...
  6. pmc Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
    S 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-..
  7. doi Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients
    Hui 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 ..