Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1
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Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyMammalian O-mannosylation: unsolved questions of structure/functionO-Mannosylation and human diseaseA conserved acidic motif is crucial for enzymatic activity of protein O-mannosyltransferases.Members of the evolutionarily conserved PMT family of protein O-mannosyltransferases form distinct protein complexes among themselves.LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyTargeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethalityExpression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndromeGlycosylation defects: a new mechanism for muscular dystrophy?Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Functional conservation of subfamilies of putative UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis elegans, and mammals. One subfamily composed of l(2)35Aa is essential in Drosophila.Malformations of cortical development: genetic mechanisms and diagnostic approachCharacterization of the PMT gene family in Cryptococcus neoformans.Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Comparative Analysis of Protein Glycosylation Pathways in Humans and the Fungal Pathogen Candida albicans.Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds.Characterization of pancreatic ERj3p, a homolog of yeast DnaJ-like protein Scj1p.O-glycosylation.Physical and functional association of human protein O-mannosyltransferases 1 and 2.The twisted gene encodes Drosophila protein O-mannosyltransferase 2 and genetically interacts with the rotated abdomen gene encoding Drosophila protein O-mannosyltransferase 1.Protein O-mannosylation: conserved from bacteria to humans.Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.Protein Glycosylation in Aspergillus fumigatus Is Essential for Cell Wall Synthesis and Serves as a Promising Model of Multicellular Eukaryotic Development.Hansenula polymorpha Pmt4p Plays Critical Roles in O-Mannosylation of Surface Membrane Proteins and Participates in Heteromeric Complex Formation.Membrane association is a determinant for substrate recognition by PMT4 protein O-mannosyltransferases.O-Mannosyltransferase 1 in Aspergillus fumigatus (AfPmt1p) is crucial for cell wall integrity and conidium morphology, especially at an elevated temperature.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypesApproaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycobiology of α-dystroglycan and muscular dystrophy.The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.Morphogenesis, adhesive properties, and antifungal resistance depend on the Pmt6 protein mannosyltransferase in the fungal pathogen candida albicans.POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.Aberrant processing of the WSC family and Mid2p cell surface sensors results in cell death of Saccharomyces cerevisiae O-mannosylation mutants.O-mannosylation precedes and potentially controls the N-glycosylation of a yeast cell wall glycoprotein.LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
P2860
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P2860
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a human homo ...... ent to human chromosome 9q34.1
@ast
Identification of a human homo ...... ent to human chromosome 9q34.1
@en
Identification of a human homo ...... ent to human chromosome 9q34.1
@en-gb
Identification of a human homo ...... ent to human chromosome 9q34.1
@nl
type
label
Identification of a human homo ...... ent to human chromosome 9q34.1
@ast
Identification of a human homo ...... ent to human chromosome 9q34.1
@en
Identification of a human homo ...... ent to human chromosome 9q34.1
@en-gb
Identification of a human homo ...... ent to human chromosome 9q34.1
@nl
prefLabel
Identification of a human homo ...... ent to human chromosome 9q34.1
@ast
Identification of a human homo ...... ent to human chromosome 9q34.1
@en
Identification of a human homo ...... ent to human chromosome 9q34.1
@en-gb
Identification of a human homo ...... ent to human chromosome 9q34.1
@nl
P2093
P921
P356
P1433
P1476
Identification of a human homo ...... ent to human chromosome 9q34.1
@en
P2093
P304
P356
10.1006/GENO.1999.5819
P407
P577
1999-06-01T00:00:00Z