Compounds > cysteine

cysteine and Pigmentary Retinopathy

cysteine has been researched along with Pigmentary Retinopathy in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19901 (6.67)18.7374
1990's6 (40.00)18.2507
2000's6 (40.00)29.6817
2010's1 (6.67)24.3611
2020's1 (6.67)2.80

Authors

AuthorsStudies
Hamner, G; Kolandaivelu, S; Motipally, SI; Murphy, J; Myers, B; Sechrest, ER1
Almansa, I; Benlloch-Navarro, S; López-Pedrajas, R; Miranda, M; Romero, FJ; Sánchez-Vallejo, V; Trachsel-Moncho, L1
Bovee-Geurts, PH; Breikers, G; DeGrip, WJ; Portier-VandeLuytgaarden, MJ1
Berson, EL; Dryja, TP; Rivolta, C1
Aartsen, WM; Kamphuis, W; Malysheva, A; McCabe, CJ; Meuleman, J; Seeliger, MW; Tonagel, F; van de Pavert, SA; Versteeg, I; Wijnholds, J1
Richards, JE; Scott, KM; Sieving, PA1
Akeo, K; Kudoh, J; Mashima, Y; Oguchi, Y; Saga, M; Shimizu, N1
Arden, G; Bhattacharya, S; Eckstein, A; Fitzke, F; Inglehearn, C; Jay, M; Jubb, C; Keen, J; Wells, J; Wroblewski, J1
Goldberg, AF; Loewen, CJ; Molday, RS1
Ayuso, C; Beneyto, M; Cuevas, JM; Espinós, C; García-Sandoval, B; Millán, JM; Nájera, C; Sánchez, F; Trujillo, MJ1
Davidson, F; Hwa, J; Khorana, HG; Klein-Seetharaman, J; Reeves, PJ1
Carballo, M; Martinez-Gimeno, M; Reig, C1
Birch, DG; Bowne, SJ; Daiger, SP; Heckenlively, JR; Lewis, RA; Mintz-Hittner, H; Northrup, H; Rodriquez, JA; Ruiz, RS; Saperstein, DA; Sohocki, MM; Sullivan, LS1
Hwa, J; Khorana, HG; Klein-Seetharaman, J1
Berson, EL1

Reviews

1 review(s) available for cysteine and Pigmentary Retinopathy

ArticleYear
Hereditary and nutritionally induced retinal degenerations: electrophysiologic and biochemical studies.
    Birth defects original article series, 1976, Volume: 12, Issue:3

    Topics: Adolescent; Adult; Animals; Caseins; Child; Cysteine; Electrophysiology; Electroretinography; Humans; Metabolism, Inborn Errors; Methionine; Photoreceptor Cells; Retinal Degeneration; Retinitis Pigmentosa; Taurine

1976

Other Studies

14 other study(ies) available for cysteine and Pigmentary Retinopathy

ArticleYear
R17C Mutation in Photoreceptor Disc-Specific Protein, PRCD, Results in Additional Lipidation Altering Protein Stability and Subcellular Localization.
    International journal of molecular sciences, 2022, Sep-16, Volume: 23, Issue:18

    Topics: Animals; Cysteine; Dogs; Eye Proteins; Humans; Membrane Proteins; Mice; Mutation; Protein Stability; Retinitis Pigmentosa; Rhodopsin

2022
Alterations in glutamate cysteine ligase content in the retina of two retinitis pigmentosa animal models.
    Free radical biology & medicine, 2016, Volume: 96

    Topics: Animals; Cysteine; Disease Models, Animal; Glutamate-Cysteine Ligase; Glutathione Disulfide; Humans; Methionine; Mice; Oxidative Stress; Retina; Retinal Degeneration; Retinitis Pigmentosa; Sulfoxides

2016
Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.
    Biochemical and biophysical research communications, 2002, Oct-04, Volume: 297, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Cell Line; Cloning, Molecular; Cysteine; Darkness; Gene Expression; Humans; Light; Molecular Sequence Data; Phenotype; Protein Conformation; Protein Folding; Recombinant Proteins; Retinitis Pigmentosa; Rhodopsin; Spectrophotometry; Spodoptera; Transfection

2002
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.
    Molecular vision, 2006, Dec-05, Volume: 12

    Topics: Cysteine; DNA Mutational Analysis; Heterozygote; Humans; Mutation, Missense; Retinal Degeneration; Retinitis Pigmentosa; Rhodopsin; Tyrosine

2006
A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007, Jan-17, Volume: 27, Issue:3

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Cysteine; Eye Proteins; Gene Expression Regulation; Humans; Membrane Proteins; Mice; Mice, Knockout; Molecular Sequence Data; Neoplasm Proteins; Nerve Tissue Proteins; Protein Structure, Tertiary; Retinal Degeneration; Retinitis Pigmentosa; Securin; Tryptophan

2007
Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
    Ophthalmology, 1995, Volume: 102, Issue:4

    Topics: Adolescent; Adult; Amino Acid Sequence; Base Sequence; Child; Cysteine; Dark Adaptation; Disulfides; DNA Primers; Electroretinography; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Phenotype; Point Mutation; Retina; Retinitis Pigmentosa; Rhodopsin; Tyrosine; Visual Fields

1995
A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Human genetics, 1993, Volume: 92, Issue:5

    Topics: Age of Onset; Base Sequence; Cysteine; DNA Mutational Analysis; DNA, Single-Stranded; Electrophoresis, Polyacrylamide Gel; Eye Proteins; Genes, Dominant; Humans; Intermediate Filament Proteins; Membrane Glycoproteins; Molecular Sequence Data; Nerve Tissue Proteins; Neuropeptides; Nucleic Acid Conformation; Peripherins; Phenotype; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Serine

1993
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
    Nature genetics, 1993, Volume: 3, Issue:3

    Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Cysteine; DNA; Exons; Eye Proteins; Female; Fluorescein Angiography; Genes, Dominant; Glutamine; Humans; Intermediate Filament Proteins; Macular Degeneration; Male; Membrane Glycoproteins; Molecular Sequence Data; Nerve Tissue Proteins; Oligodeoxyribonucleotides; Pedigree; Peripherins; Point Mutation; Polymerase Chain Reaction; Retinal Degeneration; Retinitis Pigmentosa; Sequence Deletion; Tryptophan

1993
Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa.
    Biochemistry, 1998, Jan-13, Volume: 37, Issue:2

    Topics: Animals; Cattle; Centrifugation, Density Gradient; COS Cells; Cysteine; Dimerization; Eye Proteins; Intermediate Filament Proteins; Membrane Glycoproteins; Membrane Proteins; Mutagenesis, Site-Directed; Nerve Tissue Proteins; Peripherins; Protein Binding; Protein Conformation; Protein Folding; Retinitis Pigmentosa; Tetraspanins

1998
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
    Molecular and cellular probes, 1998, Volume: 12, Issue:6

    Topics: Codon, Terminator; Cysteine; Deafness; DNA; DNA Mutational Analysis; Dyneins; Exons; Female; Genes, Recessive; Humans; Male; Middle Aged; Mutation; Myosin VIIa; Myosins; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa; Syndrome

1998
Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.
    Proceedings of the National Academy of Sciences of the United States of America, 1999, Mar-02, Volume: 96, Issue:5

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Cattle; Cysteine; Humans; Molecular Sequence Data; Mutagenesis, Site-Directed; Protein Folding; Protein Structure, Secondary; Recombinant Proteins; Retinitis Pigmentosa; Rhodopsin; Rod Opsins; Spectrophotometry

1999
A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
    Human mutation, 2000, Volume: 16, Issue:3

    Topics: Conserved Sequence; Cysteine; Eye Proteins; Genetic Carrier Screening; Germ-Line Mutation; Humans; Membrane Proteins; Mutation, Missense; Retinitis Pigmentosa; Rod Cell Outer Segment; Spain; Tetraspanins; Tyrosine

2000
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
    Human mutation, 2001, Volume: 17, Issue:1

    Topics: Amino Acid Substitution; Animals; Arginine; Cysteine; Genetic Variation; Glutamine; Homeodomain Proteins; Humans; Intermediate Filament Proteins; Leucine; Membrane Glycoproteins; Mutation; Nerve Tissue Proteins; Optic Atrophies, Hereditary; Peripherins; Prevalence; Proline; Retinal Degeneration; Retinal Diseases; Retinitis Pigmentosa; Rhodopsin; Trans-Activators; Tyrosine

2001
Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants.
    Proceedings of the National Academy of Sciences of the United States of America, 2001, Apr-24, Volume: 98, Issue:9

    Topics: Amino Acid Sequence; Animals; COS Cells; Cysteine; Disulfides; Endopeptidase K; Humans; Lysine; Maleimides; Models, Molecular; Molecular Sequence Data; Mutation; Protein Denaturation; Protein Folding; Protein Structure, Secondary; Retinitis Pigmentosa; Rhodopsin; Rod Opsins; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Structure-Activity Relationship

2001