cysteine and Niemann-Pick Diseases

cysteine has been researched along with Niemann-Pick Diseases in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (20.00)18.2507
2000's4 (80.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Millat, G; Vanier, MT1
Byers, DM; Dobson, MJ; Girouard, GS; Greer, WL; Neumann, PE; Riddell, DC1
Blanchette-Mackie, EJ; Burd, CG; Dwyer, NK; Patel, S; Pentchev, PG; Strauss, JF; Watari, H; Watari, M1
Chikh, K; Fensom, AH; Harzer, K; Marçais, C; Millat, G; Ohno, K; Tomasetto, C; Vanier, MT; Wenger, DA1
Kraft, DL; Lundquist, PA; Marks, DL; O'Brien, JF; Pagano, RE; Park, WD; Patterson, MC; Puri, V; Snow, K; Sun, X; Wheatley, CL1

Reviews

1 review(s) available for cysteine and Niemann-Pick Diseases

ArticleYear
Structure and function of the NPC2 protein.
    Biochimica et biophysica acta, 2004, Oct-11, Volume: 1685, Issue:1-3

    Topics: Amino Acid Sequence; Animals; Binding Sites; Carrier Proteins; Cholesterol; Consensus Sequence; Conserved Sequence; Cysteine; Glycoproteins; Glycosylation; Humans; Hydrogen-Ion Concentration; Models, Biological; Molecular Sequence Data; Mutation; Niemann-Pick Diseases; Proline; Protein Binding; Protein Sorting Signals; Sequence Homology, Amino Acid; Vesicular Transport Proteins

2004

Other Studies

4 other study(ies) available for cysteine and Niemann-Pick Diseases

ArticleYear
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
    American journal of human genetics, 1999, Volume: 65, Issue:5

    Topics: Amino Acid Sequence; Canada; Carrier Proteins; Cloning, Molecular; Conserved Sequence; Cysteine; DNA Mutational Analysis; Exons; Humans; Intracellular Signaling Peptides and Proteins; Introns; Membrane Glycoproteins; Membrane Proteins; Molecular Sequence Data; Niemann-Pick C1 Protein; Niemann-Pick Diseases; Polymorphism, Single-Stranded Conformational; Proteins; Sequence Alignment

1999
Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.
    Experimental cell research, 2000, Aug-25, Volume: 259, Issue:1

    Topics: Animals; Carcinoma, Hepatocellular; Carrier Proteins; CHO Cells; Cricetinae; Cysteine; Gene Expression Regulation; Humans; Intracellular Signaling Peptides and Proteins; Lysosomes; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Diseases; Plasmids; Progesterone; Promoter Regions, Genetic; Protein Structure, Tertiary; Proteins; RNA Processing, Post-Transcriptional; RNA, Messenger; Transfection; Tumor Cells, Cultured; Zinc

2000
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
    American journal of human genetics, 2001, Volume: 68, Issue:6

    Topics: Adolescent; Adult; Biological Transport; Blotting, Western; Carrier Proteins; Child; Child, Preschool; Cholesterol; Consanguinity; Conserved Sequence; Cysteine; DNA Mutational Analysis; Exons; Female; Genetic Variation; Genotype; Humans; Infant; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Molecular Sequence Data; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Diseases; Phenotype; Polymorphism, Single-Stranded Conformational; Protein Conformation; Sterols; Structure-Activity Relationship

2001
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
    American journal of human genetics, 2001, Volume: 68, Issue:6

    Topics: Alleles; Antigens, CD; Biological Transport; Boron Compounds; Carrier Proteins; Cholesterol, LDL; Cysteine; DNA Mutational Analysis; Endosomes; Fibroblasts; Genetic Testing; Genetic Variation; Genotype; Golgi Apparatus; Humans; Intracellular Signaling Peptides and Proteins; Kinetics; Lactosylceramides; Lysosomes; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Diseases; Phenotype; Protein Structure, Tertiary; Reproducibility of Results; Single-Blind Method; Sphingolipids

2001