The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a (Q24307879)

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English	The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a	scientific article

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scholarly article

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The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a (English)

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crystal structure

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congenital disorder

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X-ray crystallography

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intramolecular phosphotransferase complex

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Gene Ontology release 2020-05-02

Gene Ontology ID

transferase complex

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Gene Ontology release 2020-05-02

Gene Ontology ID

phosphomannomutase complex

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Gene Ontology release 2020-05-02

Gene Ontology ID

alpha-D-mannose 1-phosphate

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ChEBI release 2020-05-28

Phosphomannomutase 1

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GOA release 2020-03-11

mannose metabolic process

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GOA release 2020-03-11

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based on heuristic

inferred from title

congenital disorder

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based on heuristic

inferred from title

congenital disorder of glycosylation

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based on heuristic

inferred from title

Debra Dunaway-Mariano

5

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object named as

Karen N Allen

6

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Nicholas R Silvaggi

1

object named as

Nicholas R Silvaggi

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author name string

Chunchun Zhang

2

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Zhibing Lu

3

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Jianying Dai

4

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language of work or name

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publication date

26 May 2006

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Journal of Biological Chemistry

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281

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21

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14918-26

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Biological roles of oligosaccharides: all of the theories are correct

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Glycoforms modify the dynamic stability and functional activity of an enzyme.

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Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation

1 reference

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Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

1 reference

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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

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Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

1 reference

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Kinetic mechanism and pH dependence of the kinetic parameters of Pseudomonas aeruginosa phosphomannomutase/phosphoglucomutase

1 reference

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Processing of X-ray diffraction data collected in oscillation mode

1 reference

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Reciprocal-space solvent flattening

1 reference

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Coot: model-building tools for molecular graphics

1 reference

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Refinement of macromolecular structures by the maximum-likelihood method

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1 reference

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MOLPROBITY: structure validation and all-atom contact analysis for nucleic acids and their complexes

1 reference

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Phosphoryl group transfer: evolution of a catalytic scaffold

1 reference

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MolMovDB: analysis and visualization of conformational change and structural flexibility

1 reference

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HAD superfamily phosphotransferase substrate diversification: structure and function analysis of HAD subclass IIB sugar phosphatase BT4131.

1 reference

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Structure and activity analyses of Escherichia coli K-12 NagD provide insight into the evolution of biochemical function in the haloalkanoic acid dehalogenase superfamily

1 reference

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X-ray crystal structure of the hypothetical phosphotyrosine phosphatase MDP-1 of the haloacid dehalogenase superfamily

1 reference

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The crystal structure of bacillus cereus phosphonoacetaldehyde hydrolase: insight into catalysis of phosphorus bond cleavage and catalytic diversification within the HAD enzyme superfamily

1 reference

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Structural characterization of the reaction pathway in phosphoserine phosphatase: crystallographic "snapshots" of intermediate states

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Catalytic cycling in beta-phosphoglucomutase: a kinetic and structural analysis

1 reference

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1 reference

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Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

1 reference

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Direct utilization of mannose for mammalian glycoprotein biosynthesis

1 reference

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1 reference

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The CCP4 molecular-graphics project

1 reference

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PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

1 reference

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Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

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Caught in the act: the structure of phosphorylated beta-phosphoglucomutase from Lactococcus lactis

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Glycobiology: Toward Understanding the Function of Sugars

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Protein surface oligosaccharides and protein function

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10.1074/JBC.M601505200

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