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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Phosphomannomutase 2

CDG-Ia, PMM2, phosphomannomutase 2, CDG1, CDG-I
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Transferrin, HAD, CD45, CAN, AGE
Papers on CDG-Ia
Glycomic characterization of induced pluripotent stem cells derived from a patient suffering from phosphomannomutase 2 congenital disorder of glycosylation.
Buettner et al., Hannover, Germany. In Mol Cell Proteomics, Feb 2016
UNASSIGNED: PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2).
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
He et al., Boston, United States. In Clin Chem, Jan 2016
METHOD: We used LC-MS/MS and MALDI-TOF-MS analysis to identify and quantify a novel N-linked tetrasaccharide linked to the protein core, an N-tetrasaccharide (Neu5Acα2,6Galβ1,4-GlcNAcβ1,4GlcNAc) in plasma, serum glycoproteins, and a fibroblast lysate from patients with CDG caused by ALG1 [ALG1 (asparagine-linked glycosylation protein 1), chitobiosyldiphosphodolichol β-mannosyltransferase], PMM2 (phosphomannomutase 2), and MPI (mannose phosphate isomerase).
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
Jaeken et al., Catania, Italy. In Jimd Rep, Nov 2015
CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and peripheral neuropathy.
Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.
Najmabadi et al., Tehrān, Iran. In Arch Iran Med, Oct 2015
RESULTS: We identified four protein coding alleles which possibly affect protein function, in different ID genes: PMM2, RBM28, SLC19A3, and VPS13B.
Genetic defects in dolichol metabolism.
Lefeber et al., Warsaw, Poland. In J Inherit Metab Dis, 2015
These defects are called CDG-I and are located in the endoplasmic reticulum (ER) or cytoplasm.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Pérez-Dueñas et al., Barcelona, Spain. In Orphanet J Rare Dis, 2014
BACKGROUND: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation.
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
Cubellis et al., Pozzuoli, Italy. In Plos One, 2014
The most frequent disorder of glycosylation is due to mutations in the gene encoding phosphomannomutase2 (PMM2-CDG).
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.
Yang et al., Shanghai, China. In Nat Genet, 2014
We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 × 10(-8)) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P = 3.18 × 10(-6)).
Skin manifestations in CDG.
Jaeken et al., Leuven, Belgium. In J Inherit Metab Dis, 2014
Indeed, the presence of inverted nipples, fat pads and orange peel skin in a patient with developmental delay are considered as a hallmark of CDG, particularly seen in PMM2 deficiency.
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Jaeken et al., Catania, Italy. In Semin Neurol, 2014
Cerebellar involvement is an important feature of PMM2-CDG, the congenital muscular dystrophies due to dystroglycanopathy, and SRD5A3-CDG.
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
Morava-Kozicz et al., New Orleans, United States. In Expert Rev Mol Diagn, 2014
Thrombosis and progressive symptoms, such as peripheral neuropathy, scoliosis and visual demise are specifically common in PMM2-CDG.
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Morava et al., In Pediatr Dermatol, 2014
Some of these conditions, including PMM2-CDG, frequently present with recognizable skin abnormalities such as abnormal fat distribution, skin wrinkling, or peau d'orange, whereas others, such as COG7-CDG and ATP6V0A2-CDG, have been described in association with cutis laxa: wrinkled, inelastic, and sagging skin.
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
Barnett et al., Adelaide, Australia. In Pediatr Cardiol, 2012
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings.
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Körner et al., Heidelberg, Germany. In Nat Med, 2012
Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC leading to a multisystemic disease with severe psychomotor and mental retardation.
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Pérez et al., Madrid, Spain. In J Inherit Metab Dis, 2011
Identification of exclusively catalytic protein change, catalytic protein changes affecting protein stability, two protein changes disrupting the dimer interface and several misfolding changes .
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Attié-Bitach et al., Paris, France. In Mol Genet Metab, 2010
When non-immune hydrops fetalis remains unexplained despite exhaustive obstetrical screening, analysis of PMM activity in the parents' leucocytes is possible and might be performed easily during pregnancy
Ontogeny of D-mannose transport and metabolism in rat small intestine.
Ilundain et al., Sevilla, Spain. In J Membr Biol, 2010
Pmm2 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Pérez et al., Madrid, Spain. In Hum Mutat, 2009
This work reports the study of two new nucleotide changes (c.256-1G>C and c.640-9T>G) identified in the PMM2 gene in congenital disorders of glycosylation type 1a patients, and of a previously described deep intronic nucleotide change in intron 7.
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Körner et al., Göttingen, Germany. In Nat Genet, 2001
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bound glycans (CDG-II).
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Van Schaftingen et al., Leuven, Belgium. In Nat Genet, 1997
We found eleven different missense mutations in PMM2 in 16 CDG1 patients from different geographical origins and with a documented phosphomannomutase deficiency.
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