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Results: 1-10 |
Results: 10
Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha-helix motifs
Authors: Wang, XL Hu, B Zimmermann, B Kilimann, MW
Citation: Xl. Wang et al., Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha-helix motifs, J BIOL CHEM, 276(35), 2001, pp. 32480-32488
The paralemmin protein family: Identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distantcytosolic relative
Authors: Hu, B Copeland, NG Gilbert, DJ Jenkins, NA Kilimann, MW
Citation: B. Hu et al., The paralemmin protein family: Identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distantcytosolic relative, BIOC BIOP R, 285(5), 2001, pp. 1369-1376
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease
Authors: Ziemssen, F Sindern, E Schroder, JM Shin, YS Zange, JH Kilimann, MW Malin, JP Vorgerd, M
Citation: F. Ziemssen et al., Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease, ANN NEUROL, 47(4), 2000, pp. 536-540
Neurobeachin: A protein kinase A-anchoring, beige/Chediak-Higashi protein homolog implicated in neuronal membrane traffic
Authors: Wang, XL Herberg, FW Laue, MM Wullner, C Hu, B Petrasch-Parwez, E Kilimann, MW
Citation: Xl. Wang et al., Neurobeachin: A protein kinase A-anchoring, beige/Chediak-Higashi protein homolog implicated in neuronal membrane traffic, J NEUROSC, 20(23), 2000, pp. 8551-8565
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
Authors: Burwinkel, B Tanner, MS Kilimann, MW
Citation: B. Burwinkel et al., Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R), J MED GENET, 37(5), 2000, pp. 376-377
Inhibition of phospholipase D by amphiphysins
Authors: Lee, C Kim, SR Chung, JK Frohman, MA Kilimann, MW Rhee, SG
Citation: C. Lee et al., Inhibition of phospholipase D by amphiphysins, J BIOL CHEM, 275(25), 2000, pp. 18751-18758
The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13
Authors: Gilbert, DJ Engel, H Wang, XL Grzeschik, KH Copeland, NG Jenkins, NA Kilimann, MW
Citation: Dj. Gilbert et al., The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13, MAMM GENOME, 10(10), 1999, pp. 1030-1031
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renalglycogenosis with Fanconi syndrome and low phosphorylase kinase activity
Authors: Burwinkel, B Sanjad, SA Al-Sabban, E Al-Abbad, A Kilimann, MW
Citation: B. Burwinkel et al., A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renalglycogenosis with Fanconi syndrome and low phosphorylase kinase activity, HUM GENET, 105(3), 1999, pp. 240-243
Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with rim and bassoon and binds profilin
Authors: Wang, XL Kibschull, M Laue, MM Lichte, B Petrasch-Parwez, E Kilimann, MW
Citation: Xl. Wang et al., Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with rim and bassoon and binds profilin, J CELL BIOL, 147(1), 1999, pp. 151-162
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
Authors: Burwinkel, B Kreuder, J Schweitzer, S Vorgerd, M Gempel, K Gerbitz, KD Kilimann, MW
Citation: B. Burwinkel et al., Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality, BIOC BIOP R, 261(2), 1999, pp. 484-487
Risultati: 1-10 |