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Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia
GENETICS IN MEDICINE
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry
MOLECULAR GENETICS AND METABOLISM
Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
AMERICAN JOURNAL OF MEDICAL GENETICS
Requirement for phosphoglucomutase in exopolysaccharide biosynthesis in glucose- and lactose-utilizing Streptococcus thermophilus
APPLIED AND ENVIRONMENTAL MICROBIOLOGY
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
JOURNAL OF MEDICAL GENETICS
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype
ARCHIVES OF DISEASE IN CHILDHOOD
Kinetic mechanism and pH dependence of the kinetic parameters of Pseudomonas aeruginosa phosphomannomutase/phosphoglucomutase
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
HUMAN MUTATION
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)
EUROPEAN JOURNAL OF HUMAN GENETICS
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia
GLYCOBIOLOGY
"Carbohydrate-deficient glycoprotein" syndrome.
ARCHIVES DE PEDIATRIE
Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essentialfor the catalysis
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
JOURNAL OF MEDICAL GENETICS
An AciI polymorphism in the 3 ' untranslated region of the human phosphomannomutase 2 (PMM2) gene
JOURNAL OF HUMAN GENETICS
Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)
MOLECULAR GENETICS AND METABOLISM
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli
EUROPEAN JOURNAL OF HUMAN GENETICS
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
BRAIN & DEVELOPMENT
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
BRAIN & DEVELOPMENT
The sugar moiety of Tamm-Horsfall protein is affected by the carbohydrate-deficient glycoprotein type I syndrome. A case study
GLYCOCONJUGATE JOURNAL
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
EMBO JOURNAL
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi
JOURNAL OF BIOLOGICAL CHEMISTRY
Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferaseI genes during development
JOURNAL OF BIOLOGICAL CHEMISTRY
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
FEBS LETTERS
Microheterogeneity of serum glycoproteins in patients with chronic alcoholabuse compared with carbohydrate-deficient glycoprotein syndrome type I
CLINICAL CHEMISTRY
Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation
ANNALS OF CLINICAL BIOCHEMISTRY
PURIFICATION, SEPARATION AND CHARACTERIZATION OF PHOSPHOGLUCOMUTASE AND PHOSPHOMANNOMUTASE FROM MAIZE LEAVES
Biochemistry and molecular biology international
ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1
European journal of human genetics
PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY
European journal of human genetics
ABNORMAL SYNTHESIS OF MANNOSE 1-PHOSPHATE DERIVED CARBOHYDRATES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I FIBROBLASTS WITH PHOSPHOMANNOMUTASE DEFICIENCY
Glycobiology
ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A)
Glycobiology
FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A
Acta paediatrica
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX
Skeletal radiology
PRENATAL-DIAGNOSIS OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A (CDG1A) BY A COMBINATION OF ENZYMOLOGY AND GENETIC-LINKAGE ANALYSIS AFTER AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING
Prenatal diagnosis
DISORDERS IN PROTEIN GLYCOSYLATION AND POTENTIAL THERAPY - TIP OF AN ICEBERG
The Journal of pediatrics
DELETION OF ALGK IN MUCOID PSEUDOMONAS-AERUGINOSA BLOCKS ALGINATE POLYMER FORMATION AND RESULTS IN URONIC-ACID SECRETION
Journal of bacteriology
DO HUMAN CHROMOSOMAL BANDS 16P13 AND 22Q11-13 SHARE ANCESTRAL ORIGINS
American journal of human genetics
HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY
Glycobiology
CLONING AND CHARACTERIZATION OF HUMAN PHOSPHOMANNOMUTASE, A MAMMALIANHOMOLOG OF YEAST SEC53
Glycobiology
OXYGEN-DEPENDENT UP-REGULATION OF TRANSCRIPTION OF ALGINATE GENES ALGA, ALGC AND ALGD IN PSEUDOMONAS-AERUGINOSA
Research in microbiology
PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13
Genomics
CONTINUOUS MANNOSE INFUSION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Acta paediatrica
THE REACTION-MECHANISM OF PHOSPHOMANNOMUTASE IN PLANTS
FEBS letters
A PHOSPHOGLUCOMUTASE-LIKE GENE ESSENTIAL FOR THE OPTIMAL EXPRESSION OF METHICILLIN RESISTANCE IN STAPHYLOCOCCUS-AUREUS - MOLECULAR-CLONING AND DNA-SEQUENCING
Microbial drug resistance
EXPRESSION, PURIFICATION AND CHARACTERIZATION OF RECOMBINANT PHOSPHOMANNOMUTASE AND GDP-ALPHA-D-MANNOSE PYROPHOSPHORYLASE FROM SALMONELLA-ENTERICA, GROUP-B, FOR THE SYNTHESIS OF GDP-ALPHA-D-MANNOSE FROM D-MANNOSE
Glycobiology
CLONING AND FUNCTIONAL-ANALYSIS OF THE PMMA GENE ENCODING PHOSPHOMANNOMUTASE FROM THE PHOTOSYNTHETIC PROKARYOTE PROCHLOROTHRIX-HOLLANDICA
Biochimica et biophysica acta (G). General subjects
PHOSPHOMANNOMUTASE AND PHOSPHOGLUCOMUTASE IN THE RED ALGA GALDIERIA-SULPHURARIA
PLANT SCIENCE
SEQUENCE AND ANALYSIS OF THE O-ANTIGEN GENE (RFB) CLUSTER OF ESCHERICHIA-COLI-O111
Gene
REGULATION OF THE ALGINATE BIOSYNTHESIS GENE ALGC IN PSEUDOMONAS-AERUGINOSA DURING BIOFILM DEVELOPMENT IN CONTINUOUS-CULTURE
Applied and environmental microbiology
PHOSPHOMANNOMUTASE DEFICIENCY IS A CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
FEBS letters
NUCLEOTIDE-SEQUENCE AND EXPRESSION ANALYSIS OF THE ACETOBACTER-XYLINUM PHOSPHOGLUCOMUTASE GENE
Microbiology
GENETIC-ANALYSIS OF ESCHERICHIA-COLI O9 RFB - IDENTIFICATION AND DNA-SEQUENCE OF PHOSPHOMANNOMUTASE AND GDP-MANNOSE PYROPHOSPHORYLASE GENES
Microbiology
LIPOOLIGOSACCHARIDE BIOSYNTHESIS IN PATHOGENIC NEISSERIA - CLONING, IDENTIFICATION, AND CHARACTERIZATION OF THE PHOSPHOGLUCOMUTASE GENE
The Journal of biological chemistry
A FAMILY OF HEXOSEPHOSPHATE MUTASES IN SACCHAROMYCES-CEREVISIAE
European journal of biochemistry