Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

[1]  J. Weissenbach,et al.  Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. , 1996, American journal of human genetics.

[2]  R. Spritz,et al.  Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). , 1996, American journal of human genetics.

[3]  M. Lovett,et al.  Identification of the homologous beige and Chediak–Higashi syndrome genes , 1996, Nature.

[4]  M. Justice,et al.  Identification of the murine beige gene by YAC complementation and positional cloning , 1996, Nature Genetics.

[5]  P. Bork,et al.  Protein sequence motifs. , 1996, Current opinion in structural biology.

[6]  T. Mitchison,et al.  Identification of a Protein That Interacts with Tubulin Dimers and Increases the Catastrophe Rate of Microtubules , 1996, Cell.

[7]  Andrew Bohm,et al.  Crystal structure of a GA protein βγdimer at 2.1 Å resolution , 1996, Nature.

[8]  S. Sprang,et al.  The structure of the G protein heterotrimer Giα1 β 1 γ 2 , 1995, Cell.

[9]  Peer Bork,et al.  HEAT repeats in the Huntington's disease protein , 1995, Nature Genetics.

[10]  Stuart L. Schreiber,et al.  TOR kinase domains are required for two distinct functions, only one of which is inhibited by rapamycin , 1995, Cell.

[11]  R. Carraway,et al.  Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons , 1995, Neuron.

[12]  Raman Nambudripad,et al.  The ancient regulatory-protein family of WD-repeat proteins , 1994, Nature.

[13]  Paul Tempst,et al.  RAFT1: A mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs , 1994, Cell.

[14]  Z. Abdel‐Malek,et al.  On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. , 1994, Laboratory investigation; a journal of technical methods and pathology.

[15]  Sven Berg,et al.  A repeating amino acid motif shared by proteins with diverse cellular roles , 1994, Cell.

[16]  Burkhard Rost,et al.  PHD - an automatic mail server for protein secondary structure prediction , 1994, Comput. Appl. Biosci..

[17]  S. Altschul,et al.  Issues in searching molecular sequence databases , 1994, Nature Genetics.

[18]  Y. Argon,et al.  The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes , 1993, The Journal of experimental medicine.

[19]  S. Emr,et al.  A membrane‐associated complex containing the Vps15 protein kinase and the Vps34 PI 3‐kinase is essential for protein sorting to the yeast lysosome‐like vacuole. , 1993, The EMBO journal.

[20]  R. Holcombe,et al.  Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. , 1992, Clinical immunology and immunopathology.

[21]  S. Emr,et al.  A genetic and structural analysis of the yeast Vps15 protein kinase: evidence for a direct role of Vps15p in vacuolar protein delivery. , 1991, The EMBO journal.

[22]  A. Lupas,et al.  Predicting coiled coils from protein sequences , 1991, Science.

[23]  S. Emr,et al.  A new class of lysosomal/vacuolar protein sorting signals. , 1990, The Journal of biological chemistry.

[24]  J. Hofsteenge,et al.  alpha- and beta-forms of the 65-kDa subunit of protein phosphatase 2A have a similar 39 amino acid repeating structure. , 1990, Biochemistry.

[25]  J. Penner,et al.  A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. , 1987, American journal of medical genetics.

[26]  S. Hui,et al.  Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. , 1984, Blood.

[27]  M. Willingham,et al.  The origin and fate of large dense bodies in beige mouse fibroblasts. Lysosomal fusion and exocytosis. , 1981, Experimental cell research.

[28]  R. Swank,et al.  Turnover of kidney beta-glucuronidase in normal and Chédiak-Higashi (beige) mice. , 1978, The American journal of pathology.

[29]  R. Elliott,et al.  Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice , 1975, The Journal of cell biology.

[30]  M. Lutzner,et al.  Giant granules in leukocytes of the beige mouse. , 1967, The Journal of heredity.

[31]  O. Higashi,et al.  Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. , 1954, The Tohoku journal of experimental medicine.

[32]  T. Gibson,et al.  Applying motif and profile searches. , 1996, Methods in enzymology.

[33]  J. Wootton,et al.  Analysis of compositionally biased regions in sequence databases. , 1996, Methods in enzymology.

[34]  R. Holcombe,et al.  Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature. , 1994, Immunodeficiency.