Search Results

There are 85068 results for: content related to: Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

  1. You have free access to this content
    Mucolipin-1 Is a Lysosomal Membrane Protein Required for Intracellular Lactosylceramide Traffic

    Traffic

    Volume 7, Issue 10, October 2006, Pages: 1388–1398, Paul R. Pryor, Frank Reimann, Fiona M. Gribble and J. Paul Luzio

    Version of Record online : 13 SEP 2006, DOI: 10.1111/j.1600-0854.2006.00475.x

  2. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 328–332, Robert A. Saul, Virginia Proud, Harold A. Taylor, Jules G. Leroy and Jurgen Spranger

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30716

  3. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2753–2761, Maryam Zarghooni and Sarma S.R. Dittakavi

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33134

  4. A splicing mutation in the α/β GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 369–375, Richard A. Steet, Roger Hullin, Mariko Kudo, Michele Martinelli, Nils U. Bosshard, Thomas Schaffner, Stuart Kornfeld and Beat Steinmann

    Version of Record online : 4 JAN 2005, DOI: 10.1002/ajmg.a.30498

  5. Catalytically defective ganglioside neuraminidase in mucolipidosis IV

    Clinical Genetics

    Volume 21, Issue 6, June 1982, Pages: 374–381, Yoav Ben-Yoseph, Toru Momoi, Lisa C. Hahn and Henry L. Nadler

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1982.tb01390.x

  6. Mucolipidosis I — A sialidosis

    American Journal of Medical Genetics

    Volume 1, Issue 1, 1977, Pages: 21–29, J. Spranger, J. Gehler, M. Cantz and J. M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320010104

  7. The mucolipidoses: Identification by abnormal electrophoretic patterns of lysosomal hydrolases

    American Journal of Medical Genetics

    Volume 9, Issue 3, 1981, Pages: 239–253, N. K. Honey, A. L. Miller, T. B. Shows and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320090310

  8. You have full text access to this OnlineOpen article
    Two Di-Leucine Motifs Regulate Trafficking of Mucolipin-1 to Lysosomes

    Traffic

    Volume 7, Issue 3, March 2006, Pages: 337–353, Silvia Vergarajauregui and Rosa Puertollano

    Version of Record online : 9 JAN 2006, DOI: 10.1111/j.1600-0854.2006.00387.x

  9. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 76–84, M Encarnação, a L Lacerda, a R Costa, a MJ Prata, b MF Coutinho, a H Ribeiro, a L Lopes, a M Pineda, c J Ignatius, d H Galvez, c A Mustonen, d P Vieira, e MR Lima and a S Alves a

    Version of Record online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01185.x

  10. Mucolipidosis III (pseudo-Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells

    Clinical Genetics

    Volume 4, Issue 5, September 1973, Pages: 388–397, H. A. Taylor, G. H. Thomas, C. S. Miller, T. E. Kelly and D. Siggers

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1973.tb01165.x

  11. You have free access to this content
    Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization

    FEBS Letters

    Volume 567, Issue 2-3, June 04, 2004, Pages: 219–224, M. Manzoni, E. Monti, R. Bresciani, A. Bozzato, S. Barlati, M.T. Bassi and G. Borsani

    Version of Record online : 8 MAY 2004, DOI: 10.1016/j.febslet.2004.04.080

  12. You have free access to this content
    Mucolipidosis Type IV Protein TRPML1-Dependent Lysosome Formation

    Traffic

    Volume 16, Issue 3, March 2015, Pages: 284–297, Austin Miller, Jessica Schafer, Cameron Upchurch, Ellen Spooner, Julie Huynh, Sebastian Hernandez, Brooke McLaughlin, Liam Oden and Hanna Fares

    Version of Record online : 25 JAN 2015, DOI: 10.1111/tra.12249

  13. Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 368–376, Raffaella De Pace, Maria Francisca Coutinho, Friedrich Koch-Nolte, Friedrich Haag, Maria João Prata, Sandra Alves, Thomas Braulke and Sandra Pohl

    Version of Record online : 15 JAN 2014, DOI: 10.1002/humu.22502

  14. You have free access to this content
    Impaired Phosphorylation of Lysosomal Enzymes in Fibroblasts of Patients with Mucolipidosis III

    European Journal of Biochemistry

    Volume 122, Issue 1, February 1982, Pages: 119–123, Andrej HASILIK, Abdul WAHBED, Michael CANTZ and Kurt von FIGURA

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1982.tb05856.x

  15. Combined Tarsal and Carpal Tunnel Syndrome in Mucolipidosis Type III

    Annals of the New York Academy of Sciences

    Volume 1151, Issue 1, January 2009, Pages: 77–84, Izelle Smuts, Denise Potgieter and Francois Hendrikus Van Der Westhuizen

    Version of Record online : 23 DEC 2008, DOI: 10.1111/j.1749-6632.2008.03451.x

  16. You have free access to this content
    Missense mutations in N-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 235–240, Stephan Tiede, Nicole Muschol, Gert Reutter, Michael Cantz, Kurt Ullrich and Thomas Braulke

    Version of Record online : 10 AUG 2005, DOI: 10.1002/ajmg.a.30868

  17. You have free access to this content
    Mucolipins: Intracellular TRPML1-3 channels

    FEBS Letters

    Volume 584, Issue 10, May 17, 2010, Pages: 2013–2021, Xiping Cheng, Dongbiao Shen, Mohammad Samie and Haoxing Xu

    Version of Record online : 13 JAN 2010, DOI: 10.1016/j.febslet.2009.12.056

  18. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1187–1195, Beyhan Tüysüz, Adife Gülhan Ercan-Sencicek, Nur Canpolat, Asuman Koparır, Saliha Yılmaz, Işın Kılıçaslan, Burcu Gülez, Kaya Bilguvar and Murat Günel

    Version of Record online : 8 JAN 2016, DOI: 10.1002/ajmg.a.37543

  19. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)

    Clinical Genetics

    Volume 47, Issue 4, April 1995, Pages: 191–199, M. Beck, R. Barone, R. Hoffmann, W. Kratzer, Th. Rakowsky, F. Nigro and A. Fiumara

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1995.tb03958.x

  20. You have free access to this content
    Oligosaccharide and Ganglioside Neuraminidase Activities of Mucolipidosis I (Sialidosis) and Mucolipidosis II (I-Cell Disease) Fibroblasts

    European Journal of Biochemistry

    Volume 97, Issue 1, June 1979, Pages: 113–118, Michael CANTZ and Helgdrd MESSER

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1432-1033.1979.tb13091.x