| Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy. | Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X, Gao C, Li L, Jiang L, Wei Y, Che F, Liu Q. | 02/14/2023 |
| 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 |
| The study expands the mutational spectrum for Limb-girdle Muscular Dystrophy type2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N. | Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. | 10/12/2019 |
| Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy | Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A. | 06/9/2018 |
| POMT2 missense mutation is associated with Cystic kidneys in fetal Walker-Warburg syndrome. | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA., Free PMC Article | 02/10/2018 |
| 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 |
| Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. | Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL., Free PMC Article | 11/22/2014 |
| 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 |
| POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported. | POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P. | 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 |
| Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. | A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
Murakami T, Hayashi YK, Ogawa M, Noguchi S, Campbell KP, Togawa M, Inoue T, Oka A, Ohno K, Nonaka I, Nishino I., Free PMC Article | 01/21/2010 |
| testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2 | POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
Lommel M, Willer T, Strahl S. | 01/21/2010 |
| In pomt2 mutation in CMD patient(three out of 5) show cerebellar hypoplasia. | 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 (2) articlesCongenital 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 |
| 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 |
| identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype | POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. | 01/21/2010 |
| Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement. | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P. | 01/21/2010 |
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome [case reports] | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H., Free PMC Article | 01/21/2010 |
| human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity | Physical and functional association of human protein O-mannosyltransferases 1 and 2.
Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T. | 01/21/2010 |
| molecular cloning and characterization | Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.
Willer T, Amselgruber W, Deutzmann R, Strahl S. | 01/21/2010 |
| active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain | Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T., Free PMC Article | 01/21/2010 |