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La ricerca find articoli where soggetti phrase all words 'phosphomannomutase' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 57 riferimenti
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    1. Westphal, V; Peterson, S; Patterson, M; Tournay, A; Blumenthal, A; Treacy, EP; Freeze, HH
      Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia

      GENETICS IN MEDICINE
    2. Westphal, V; Enns, GM; McCracken, MF; Freeze, HH
      Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry

      MOLECULAR GENETICS AND METABOLISM
    3. Davis, JA; Freeze, HH
      Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    4. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
      Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Levander, F; Radstrom, P
      Requirement for phosphoglucomutase in exopolysaccharide biosynthesis in glucose- and lactose-utilizing Streptococcus thermophilus

      APPLIED AND ENVIRONMENTAL MICROBIOLOGY
    6. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    7. Kjaergaard, S; Schwartz, M; Skovby, F
      Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype

      ARCHIVES OF DISEASE IN CHILDHOOD
    8. Naught, LE; Tipton, PA
      Kinetic mechanism and pH dependence of the kinetic parameters of Pseudomonas aeruginosa phosphomannomutase/phosphoglucomutase

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    9. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
      Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

      HUMAN MUTATION
    10. Schollen, E; Kjaergaard, S; Legius, E; Schwartz, M; Matthijs, G
      Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    11. Dupre, T; Barnier, A; de Lonlay, P; Cormier-Daire, V; Durand, G; Codogno, P; Seta, N
      Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

      GLYCOBIOLOGY
    12. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    13. Mio, T; Yamada-Okabe, T; Arisawa, M; Yamada-Okabe, H
      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
    14. Vuillaumier-Barrot, S; Hetet, G; Barnier, A; Dupre, T; Cuer, M; de Lonlay, P; Cormier-Daire, V; Durand, G; Grandchamp, B; Seta, N
      Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

      JOURNAL OF MEDICAL GENETICS
    15. Mizugishi, K; Kuwajima, K; Obata, K; Kondo, I
      An AciI polymorphism in the 3 ' untranslated region of the human phosphomannomutase 2 (PMM2) gene

      JOURNAL OF HUMAN GENETICS
    16. Matthijs, G; Schollen, E; Heykants, L; Grunewald, S
      Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)

      MOLECULAR GENETICS AND METABOLISM
    17. Kjaergaard, S; Skovby, F; Schwartz, M
      Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Carchon, H; Van Schaftingen, E; Matthijs, G; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    19. Grunewald, S; Huyben, K; de Jong, JGN; Smeitink, JAM; Rubio, E; Boers, GHJ; Conradt, HS; Wendel, U; Wevers, RA
      beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    20. Dupre, T; Ogier-Denis, E; Moore, SEH; Cormier-Daire, V; Dehoux, M; Durand, G; Seta, N; Codogno, P
      Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    21. Mizugishi, K; Yamanaka, K; Kuwajima, K; Yuasa, I; Shigemoto, K; Kondo, I
      Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

      BRAIN & DEVELOPMENT
    22. Barone, R; Pavone, L; Fiumara, A; Bianchini, R; Jaeken, J
      Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

      BRAIN & DEVELOPMENT
    23. Olczak, T; Olczak, M; Kubicz, A
      The sugar moiety of Tamm-Horsfall protein is affected by the carbohydrate-deficient glycoprotein type I syndrome. A case study

      GLYCOCONJUGATE JOURNAL
    24. Korner, C; Knauer, R; Stephani, U; Marquardt, T; Lehle, L; von Figura, K
      Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

      EMBO JOURNAL
    25. Lubke, T; Marquardt, T; von Figura, K; Korner, C
      A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

      JOURNAL OF BIOLOGICAL CHEMISTRY
    26. Chen, SH; Zhou, SH; Sarkar, M; Spence, AM; Schachter, H
      Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferaseI genes during development

      JOURNAL OF BIOLOGICAL CHEMISTRY
    27. Pirard, M; Matthijs, G; Heykants, L; Schollen, E; Grunewald, S; Jaeken, J; van Schaftingen, E
      Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

      FEBS LETTERS
    28. Henry, H; Froehlich, F; Perret, R; Tissot, JD; Eilers-Messerli, B; Lavanchy, D; Dionisi-Vici, C; Gonvers, JJ; Bachmann, C
      Microheterogeneity of serum glycoproteins in patients with chronic alcoholabuse compared with carbohydrate-deficient glycoprotein syndrome type I

      CLINICAL CHEMISTRY
    29. Keir, G; Winchester, BG; Clayton, P
      Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

      ANNALS OF CLINICAL BIOCHEMISTRY
    30. POPOVA TN; MATASOVA LV; LAPOTKO AA
      PURIFICATION, SEPARATION AND CHARACTERIZATION OF PHOSPHOGLUCOMUTASE AND PHOSPHOMANNOMUTASE FROM MAIZE LEAVES

      Biochemistry and molecular biology international
    31. KJAERGAARD S; SKOVBY F; SCHWARTZ M
      ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1

      European journal of human genetics
    32. MATTHIJS G; SCHOLLEN E; CASSIMAN JJ; CORMIERDAIRE V; JAEKEN J; VANSCHAFTINGEN E
      PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY

      European journal of human genetics
    33. KORNER C; LEHLE L; VONFIGURA K
      ABNORMAL SYNTHESIS OF MANNOSE 1-PHOSPHATE DERIVED CARBOHYDRATES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I FIBROBLASTS WITH PHOSPHOMANNOMUTASE DEFICIENCY

      Glycobiology
    34. BERGMANN M; GROSS HJ; ABDELATTY F; MOLLER P; JAEKEN J; SCHWARTZALBIEZ R
      ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A)

      Glycobiology
    35. KJAERGAARD S; KRISTIANSSON B; STIBLER H; FREEZE HH; SCHWARTZ M; MARTINSSON T; SKOVBY F
      FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A

      Acta paediatrica
    36. GAREL C; BAUMANN C; BESNARD M; OGIER H; JAEKEN J; HASSAN M
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX

      Skeletal radiology
    37. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; YOUNG E; WINCHESTER B
      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
    38. FREEZE HH
      DISORDERS IN PROTEIN GLYCOSYLATION AND POTENTIAL THERAPY - TIP OF AN ICEBERG

      The Journal of pediatrics
    39. JAIN S; OHMAN DE
      DELETION OF ALGK IN MUCOID PSEUDOMONAS-AERUGINOSA BLOCKS ALGINATE POLYMER FORMATION AND RESULTS IN URONIC-ACID SECRETION

      Journal of bacteriology
    40. GILES RH; DAUWERSE HG; VANOMMEN GJB; BREUNING MH
      DO HUMAN CHROMOSOMAL BANDS 16P13 AND 22Q11-13 SHARE ANCESTRAL ORIGINS

      American journal of human genetics
    41. POHL S; HOFFMANN A; RUDIGER A; NIMTZ M; JAEKEN J; CONRADT HS
      HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY

      Glycobiology
    42. HANSEN SH; FRANK SR; CASANOVA JE
      CLONING AND CHARACTERIZATION OF HUMAN PHOSPHOMANNOMUTASE, A MAMMALIANHOMOLOG OF YEAST SEC53

      Glycobiology
    43. LEITAO JH; SACORREIA I
      OXYGEN-DEPENDENT UP-REGULATION OF TRANSCRIPTION OF ALGINATE GENES ALGA, ALGC AND ALGD IN PSEUDOMONAS-AERUGINOSA

      Research in microbiology
    44. MATTHIJS G; SCHOLLEN E; PIRARD M; BUDARF ML; VANSCHAFTINGEN E; CASSIMAN JJ
      PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13

      Genomics
    45. MAYATEPEK E; SCHRODER M; KOHLMULLER D; BIEGER WP; NUTZENADEL W
      CONTINUOUS MANNOSE INFUSION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Acta paediatrica
    46. OESTERHELT C; SCHNARRENBERGER C; GROSS W
      THE REACTION-MECHANISM OF PHOSPHOMANNOMUTASE IN PLANTS

      FEBS letters
    47. WU SW; DELENCASTRE H; SALI A; TOMASZ A
      A PHOSPHOGLUCOMUTASE-LIKE GENE ESSENTIAL FOR THE OPTIMAL EXPRESSION OF METHICILLIN RESISTANCE IN STAPHYLOCOCCUS-AUREUS - MOLECULAR-CLONING AND DNA-SEQUENCING

      Microbial drug resistance
    48. ELLING L; RITTER JE; VERSECK S
      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
    49. DWIVEDI K; POST AF; BULLERJAHN S
      CLONING AND FUNCTIONAL-ANALYSIS OF THE PMMA GENE ENCODING PHOSPHOMANNOMUTASE FROM THE PHOTOSYNTHETIC PROKARYOTE PROCHLOROTHRIX-HOLLANDICA

      Biochimica et biophysica acta (G). General subjects
    50. OESTERHELT C; SCHNARRENBERGER C; GROSS W
      PHOSPHOMANNOMUTASE AND PHOSPHOGLUCOMUTASE IN THE RED ALGA GALDIERIA-SULPHURARIA

      PLANT SCIENCE
    51. BASTIN DA; REEVES PR
      SEQUENCE AND ANALYSIS OF THE O-ANTIGEN GENE (RFB) CLUSTER OF ESCHERICHIA-COLI-O111

      Gene
    52. DAVIES DG; GEESEY GG
      REGULATION OF THE ALGINATE BIOSYNTHESIS GENE ALGC IN PSEUDOMONAS-AERUGINOSA DURING BIOFILM DEVELOPMENT IN CONTINUOUS-CULTURE

      Applied and environmental microbiology
    53. VANSCHAFTINGEN E; JAEKEN J
      PHOSPHOMANNOMUTASE DEFICIENCY IS A CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      FEBS letters
    54. BRAUTASET T; STANDAL R; FJAERVIK E; VALLA S
      NUCLEOTIDE-SEQUENCE AND EXPRESSION ANALYSIS OF THE ACETOBACTER-XYLINUM PHOSPHOGLUCOMUTASE GENE

      Microbiology
    55. SUGIYAMA T; KIDO N; KOMATSU T; OHTA M; JANN K; JANN B; SAEKI A; KATO N
      GENETIC-ANALYSIS OF ESCHERICHIA-COLI O9 RFB - IDENTIFICATION AND DNA-SEQUENCE OF PHOSPHOMANNOMUTASE AND GDP-MANNOSE PYROPHOSPHORYLASE GENES

      Microbiology
    56. ZHOU DG; STEPHENS DS; GIBSON BW; ENGSTROM JJ; MCALLISTER CF; LEE FKN; APICELLA MA
      LIPOOLIGOSACCHARIDE BIOSYNTHESIS IN PATHOGENIC NEISSERIA - CLONING, IDENTIFICATION, AND CHARACTERIZATION OF THE PHOSPHOGLUCOMUTASE GENE

      The Journal of biological chemistry
    57. BOLES E; LIEBETRAU W; HOFMANN M; ZIMMERMANN FK
      A FAMILY OF HEXOSEPHOSPHATE MUTASES IN SACCHAROMYCES-CEREVISIAE

      European journal of biochemistry


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 23:49:02