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La ricerca find articoli where soggetti phrase all words 'GM2 activator protein' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 40 riferimenti
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    1. Schuette, CG; Pierstorff, B; Huettler, S; Sandhoff, K
      Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis

      GLYCOBIOLOGY
    2. Beccari, T; Balducci, C; Aisa, MC; Della Fazia, MA; Servillo, G; Orlacchio, A
      Promoter characterization and expression of the gene coding for the human GM2 activator protein

      BIOSCIENCE REPORTS
    3. Sandhoff, K
      The G(M2)-gangliosidoses and the elucidation of the beta-hexosaminidase system

      TAY-SACHS DISEASE
    4. Kolodny, EH
      Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction

      TAY-SACHS DISEASE
    5. Mahuran, DJ; Gravel, RA
      The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation

      TAY-SACHS DISEASE
    6. Suzuki, K
      Recognition and delineation of beta-hexosaminidase alpha-chain variants: Ahistorical and personal perspective

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

      TAY-SACHS DISEASE
    8. Schepers, U; Lemm, T; Herzog, V; Sandhoff, K
      Characterization of regulatory elements in the 5 '-flanking region of the GM2 activator gene

      BIOLOGICAL CHEMISTRY
    9. Wright, CS; Li, SC; Rastinejad, F
      Crystal structure of human GM2-activator protein with a novel beta-cup topology

      JOURNAL OF MOLECULAR BIOLOGY
    10. Kolter, T; Sandhoff, K
      Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases

      ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
    11. 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
    12. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    13. Bierfreund, U; Lemm, T; Hoffmann, A; Uhlhorn-Dierks, G; Childs, RA; Yuen, CT; Feizi, T; Sandhoff, K
      Recombinant GM2-activator protein stimulates in vivo degradation of GA2 inGM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay

      NEUROCHEMICAL RESEARCH
    14. Kolter, T; Doering, T; Wilkening, G; Werth, N; Sandhoff, K
      Recent advances in the biochemistry of glycosphingolipid metabolism

      BIOCHEMICAL SOCIETY TRANSACTIONS
    15. Sonnino, S; Brocca, P; Acquotti, D; Bernardi, A; Raimondi, L; Kiso, M; Ishida, H; Li, SC; Li, YT
      The structural basis for the susceptibility of gangliosides to enzymatic degradation

      BIOSCIENCE REPORTS
    16. Giehl, A; Lemm, T; Bartelsen, O; Sandhoff, K; Blume, A
      Interaction of the GM2-activator protein with phospholipid-ganglioside bilayer membranes and with monolayers at the air-water interface

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    17. KOLTER T; SANDHOFF K
      RECENT ADVANCES IN THE BIOCHEMISTRY OF SPHINGOLIPIDOSES

      Brain pathology
    18. SCHUTTE CG; LEMM T; GLOMBITZA GJ; SANDHOFF K
      COMPLETE LOCALIZATION OF DISULFIDE BONDS IN GM2 ACTIVATOR PROTEIN

      Protein science
    19. KOLTER T; SANDHOFF K
      GLYCOSPHINGOLIPID DEGRADATION AND ANIMAL-MODELS OF GM2-GANGLIOSIDOSES

      Journal of inherited metabolic disease
    20. HOU YM; MCINNES B; HINEK A; KARPATI G; MAHURAN D
      A PRO(504)-]SER SUBSTITUTION IN THE BETA-SUBUNIT OF BETA-HEXOSAMINIDASE A INHIBITS ALPHA-SUBUNIT HYDROLYSIS OF G(M2) GANGLIOSIDE, RESULTINGIN CHRONIC SANDHOFF-DISEASE

      The Journal of biological chemistry
    21. 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
    22. WRIGHT CS; LI SC
      CRYSTALLIZATION AND PRELIMINARY-X-RAY CHARACTERIZATION OF G(M2)-ACTIVATOR PROTEIN

      Acta crystallographica. Section D, Biological crystallography
    23. 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
    24. FREISCHUTZ B; TOKUDA A; ARIGA T; BERMUDEZ AJ; YU RK
      UNUSUAL GANGLIOSIDOSIS IN EMU (DROMAIUS-NOVAEHOLLANDIAE)

      Journal of neurochemistry
    25. SANDHOFF K; KOLTER T
      BIOCHEMISTRY OF GLYCOSPHINGOLIPID DEGRADATION

      Clinica chimica acta
    26. SANDHOFF K; KOLTER T
      TOPOLOGY OF GLYCOSPHINGOLIPID DEGRADATION

      Trends in cell biology
    27. 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
    28. SCHEPERS U; GLOMBITZA G; LEMM T; HOFFMANN A; CHABAS A; OZAND P; SANDHOFF K
      MOLECULAR ANALYSIS OF A GM2-ACTIVATOR DEFICIENCY IN 2 PATIENTS WITH GM2-GANGLIOSIDOSIS AB VARIANT

      American journal of human genetics
    29. 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
    30. GIESELMANN V
      LYSOSOMAL STORAGE DISEASES

      Biochimica et biophysica acta. Molecular basis of disease
    31. KUWANA T; MULLOCK BM; LUZIO JP
      IDENTIFICATION OF A LYSOSOMAL PROTEIN CAUSING LIPID TRANSFER, USING AFLUORESCENCE ASSAY DESIGNED TO MONITOR MEMBRANE-FUSION BETWEEN RAT-LIVER ENDOSOMES AND LYSOSOMES

      Biochemical journal
    32. YAMANAKA S; JOHNSON ON; LYU MS; KOZAK CA; PROIA RL
      THE MOUSE GENE ENCODING THE G(M2) ACTIVATOR PROTEIN (GM2A) - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING

      Genomics
    33. NOVAK A; LOWDEN JA
      G(M2) GANGLIOSIDE ACTIVATOR OCCURS IN MULTIPLE FORMS

      Biochimica et biophysica acta (G). General subjects
    34. SUZUKI K
      SAUL-R-KOREY-LECTURE - MOLECULAR-GENETICS OF TAY-SACHS AND RELATED DISORDERS - A PERSONAL ACCOUNT

      Journal of neuropathology and experimental neurology
    35. BECCARI T; PALMERINI CA; SERVILLO G; DELLAFAZIA MA; MAGNI MPV; ORLACCHIO A
      G(M2) ACTIVATOR PROTEIN EXPRESSION IN MOUSE-TISSUES

      Biochemical and biophysical research communications
    36. BECCARI T; PALMERINI CA; SERVILLO G; DELLAFAZIA MA; MAGNI MPV; ORLACCHIO A
      G(M2) ACTIVATOR PROTEIN EXPRESSION IN MOUSE-TISSUES

      Biochemical and biophysical research communications
    37. SCHRODER M; SCHNABEL D; HURWITZ R; YOUNG E; SUZUKI K; SANDHOFF K
      MOLECULAR-GENETICS OF GM2-GANGLIOSIDOSIS AB-VARIANT - A NOVEL MUTATION AND EXPRESSION IN BHK CELLS

      Human genetics
    38. KUWANA T; MULLOCK BM; LUZIO JP
      IDENTIFICATION OF A PROTEIN CAPABLE OF CAUSING FUSION OF ENDOSOME ANDLYSOSOME MEMBRANES

      Biochemical Society transactions
    39. SANDHOFF K
      TOPOLOGY AND REGULATION OF GLYCOLIPID METABOLISM

      Glycoconjugate journal
    40. TASSI C; BECCARI T; COSTANZI E; ORLACCHIO A
      BETA-N-ACETYLHEXOSAMINIDASE IN SPINAL MUSCULAR-ATROPHY FIBROBLASTS

      Clinica chimica acta


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Documento generato il 26/10/20 alle ore 03:35:18