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La ricerca find articoli where authors phrase all words ' MAHURAN DJ' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 20 riferimenti
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    1. Mahuran, DJ; Gravel, RA
      The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation

      TAY-SACHS DISEASE
    2. Triggs-Raine, B; Mahuran, DJ; Gravel, RA
      Naturally occurring mutations in G(M2) gangliosidosis: A compendium

      TAY-SACHS DISEASE
    3. Miranda, PV; Gonzalez-Echeverriia, F; Blaquier, JA; Mahuran, DJ; Tezon, JG
      Evidence for the participation of beta-hexosaminidase in human sperm-zona pellucida interaction in vitro

      MOLECULAR HUMAN REPRODUCTION
    4. Bagshaw, RD; Callahan, JW; Mahuran, DJ
      Desalting of in-gel-digested protein sample with mini-C18 columns for matrix-assisted laser desorption ionization time of flight peptide mass fingerprinting

      ANALYTICAL BIOCHEMISTRY
    5. Mundel, TM; Heid, HW; Mahuran, DJ; Kriz, W; Mundel, P
      Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    6. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    7. Chen, B; Rigat, B; Curry, C; Mahuran, DJ
      Structure of the GM2A gene: Identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. PETROULAKIS E; CAO ZM; CLARKE JTR; MAHURAN DJ; LEE G; TRIGGSRAINE B
      W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS

      Human mutation
    9. REDONNETVERNHET I; CHATELUT M; BUSCAIL L; MAHURAN DJ; SALVAYRE R; LEVADE T
      A619-]G SUBSTITUTION IN THE HEXB GENE IS NOT A DELETERIOUS MUTATION, BUT A FREQUENT POLYMORPHISM

      Human mutation
    10. MAHURAN DJ
      THE GM2 ACTIVATOR PROTEIN, ITS ROLES AS A COFACTOR IN GM2 HYDROLYSIS AND AS A GENERAL GLYCOLIPID TRANSPORT PROTEIN

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    11. SMILJANICGEORGIJEV N; RIGAT B; XIE B; WANG W; MAHURAN DJ
      CHARACTERIZATION OF THE AFFINITY OF THE G(M2) ACTIVATOR PROTEIN FOR GLYCOLIPIDS BY A FLUORESCENCE DEQUENCHING ASSAY

      Biochimica et biophysica acta. Protein structure and molecular enzymology
    12. RIGAT B; WANG W; LEUNG A; MAHURAN DJ
      2 MECHANISMS FOR THE RECAPTURE OF EXTRACELLULAR GM(2) ACTIVATOR PROTEIN - EVIDENCE FOR A MAJOR SECRETORY FORM OF THE PROTEIN

      Biochemistry
    13. REDONNETVERNHET I; MAHURAN DJ; SALVAYRE R; DUBAS F; LEVADE T
      SIGNIFICANCE OF 2 POINT MUTATIONS PRESENT IN EACH HEXB ALLELE OF PATIENTS WITH ADULT G(M2) GANGLIOSIDOSIS (SANDHOFF DISEASE) - HOMOZYGOSITYFOR THE ILE(207)-]VAL SUBSTITUTION IS NOT ASSOCIATED WITH A CLINICAL OR BIOCHEMICAL PHENOTYPE

      Biochimica et biophysica acta. Molecular basis of disease
    14. TSE R; WU YJ; VAVOUGIOS G; HOU YM; HINEK A; MAHURAN DJ
      IDENTIFICATION OF FUNCTIONAL DOMAINS WITHIN THE ALPHA-SUBUNIT AND BETA-SUBUNIT OF BETA-HEXOSAMINIDASE-A THROUGH THE EXPRESSION OF ALPHA-BETA-FUSION PROTEINS

      Biochemistry
    15. TSE R; VAVOUGIOS G; HOU YM; MAHURAN DJ
      IDENTIFICATION OF AN ACTIVE ACIDIC RESIDUE IN THE CATALYTIC SITE OF BETA-HEXOSAMINIDASE

      Biochemistry
    16. HOU YM; TSE R; MAHURAN DJ
      DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A

      Biochemistry
    17. HOU YM; VAVOUGIOS G; HINEK A; WU KK; HECHTMAN P; KAPLAN F; MAHURAN DJ
      THE VAL(192)LEU MUTATION IN THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A IS NOT ASSOCIATED WITH THE B1-VARIANT FORM OF TAY-SACHS-DISEASE

      American journal of human genetics
    18. MAHURAN DJ
      BETA-HEXOSAMINIDASE - BIOSYNTHESIS AND PROCESSING OF THE NORMAL ENZYME, AND IDENTIFICATION OF MUTATIONS CAUSING JEWISH TAY-SACHS-DISEASE

      Clinical biochemistry
    19. HENG HHQ; XIE B; SHI XM; TSUI LC; MAHURAN DJ
      REFINED MAPPING OF THE G(M2) ACTIVATOR PROTEIN (GM2A) LOCUS TO 5Q31.3-Q33.1, DISTAL TO THE SPINAL MUSCULAR-ATROPHY LOCUS

      Genomics
    20. BROWN CA; MAHURAN DJ
      BETA-HEXOSAMINIDASE ISOZYMES FROM CELLS COTRANSFECTED WITH ALPHA-CDNAAND BETA-CDNA CONSTRUCTS - ANALYSIS OF THE ALPHA-SUBUNIT MISSENSE MUTATION ASSOCIATED WITH THE ADULT FORM OF TAY-SACHS-DISEASE

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/01/21 alle ore 19:55:28