| POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.", trans "POMT1POMT22alpha-. | POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
Gan S, Yang H, Xiao T, Pan Z, Wu L., Free PMC Article | 10/2/2021 |
| Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1. | Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1.
Vuorela A, Freitag TL, Leskinen K, Pessa H, Härkönen T, Stracenski I, Kirjavainen T, Olsen P, Saarenpää-Heikkilä O, Ilonen J, Knip M, Vaheri A, Partinen M, Saavalainen P, Meri S, Vaarala O., Free PMC Article | 05/8/2021 |
| In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene. | Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. | 04/20/2019 |
| The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. | [Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
Chen C, Mei S, Zhu C, Ren Y, Kong X. | 06/9/2018 |
| These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H., Free PMC Article | 03/24/2018 |
| O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated. | Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.
Larsen ISB, Narimatsu Y, Joshi HJ, Yang Z, Harrison OJ, Brasch J, Shapiro L, Honig B, Vakhrushev SY, Clausen H, Halim A., Free PMC Article | 07/15/2017 |
| results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4. | Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.
Bausewein D, Engel J, Jank T, Schoedl M, Strahl S., Free PMC Article | 05/13/2017 |
| Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with alpha-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients. | Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H. | 04/8/2017 |
| Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction. | Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.
Ragni E, Lommel M, Moro M, Crosti M, Lavazza C, Parazzi V, Saredi S, Strahl S, Lazzari L., Free PMC Article | 05/28/2016 |
| report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified | A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr., Free PMC Article | 01/17/2015 |
| Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force. | Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E., Free PMC Article | 05/4/2013 |
| the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied. | Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
Akasaka-Manya K, Manya H, Hayashi M, Endo T. | 10/15/2011 |
| the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis | POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T, Manya H, Seta N, Guicheney P. | 01/1/2011 |
| the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex. | Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
Manya H, Akasaka-Manya K, Nakajima A, Kawakita M, Endo T. | 05/31/2010 |
| pyramidal neurons frequently displayed abnormal (oblique, horizontal, or inverted) orientation in a 2.5-month-old infant with Walker-Warburg syndrome homozygotic for a novel POMT1 gene mutation | POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I. | 01/21/2010 |
| A double homozygous mutation in the POMT1 gene in two unrelated Gypsy families, is reported. | A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
Cotarelo RP, Fano O, Raducu M, Peña A, Tarilonte P, Mateos F, Simón R, Cabello A, Cruces J. | 01/21/2010 |
| Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. | Walker-Warburg syndrome.
Vajsar J, Schachter H., Free PMC Article | 01/21/2010 |
| We conclude that a significant increase of POMT1 missense mutations may indicate a functional role in neoplastic conditions in individual glioneuronal and glial brain tumors. | Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
Snoei J, Urbach H, Engels G, Fassunke J, von Lehe M, Becker AJ, Majores M. | 01/21/2010 |
| Thirteen CMD patients showed mutations in POMT1, But normal brain MRI associated with mental retardation and microcephaly. mutations in POMT1 (six out of 13). | POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E, Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesMaternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E, Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. | 06/11/2008 |
| In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. | Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. | 03/13/2008 |
| An inverse Alu-repeated DNA element within exon 3 is associated with Walker Warburg syndrome in French Caucasian families. | Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N. | 01/21/2010 |
| Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. | Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltràn-Valero de Barnabè D, van Bokoven H, Squarzoni S, Merlini L. | 01/21/2010 |
| The authors report on a patient with Walker-Warburg syndrome and a novel POMT1 mutation. The patient expressed alpha-dystroglycan core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with loss of laminin-binding activity | POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I. | 01/21/2010 |