Page last updated: 2024-09-05

phosphatidylcholines and Retinitis Pigmentosa

phosphatidylcholines has been researched along with Retinitis Pigmentosa in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19902 (33.33)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's4 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cornell, RB; Dennis, MK; Dhillon, RK; Lee, J; Taneva, SG; Tse, R1
Blout, C; Cho, SY; Cho, TJ; Doheny, KF; Hetrick, KN; Hoover-Fong, J; Jin, DK; Jurgens, J; Kim, OH; Kim, SJ; Kitoh, H; Ling, H; Modaff, P; Moser, A; Park, WY; Pauli, RM; Sobreira, N; Valle, D1
Wong, CK1
Bakeri, HA; Bhattacharya, SS; Branham, KE; Brooks, MJ; Campos, MM; Chang, B; Feathers, KL; Friedman, JS; Heckenlively, JR; Hurd, RE; Koenekoop, RK; Krauth, DS; Liu, C; Lopez, I; Maubaret, C; Rodriguez, IR; Shaw, M; Swaroop, A; Thomas, GE; Thompson, DA; Waseem, NH; Webster, AR1
Fujiwara, H1
Mitchell, JE; Swartz, JG1

Other Studies

6 other study(ies) available for phosphatidylcholines and Retinitis Pigmentosa

ArticleYear
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
    The Journal of biological chemistry, 2019, 02-01, Volume: 294, Issue:5

    Topics: Animals; Catalysis; Catalytic Domain; Chlorocebus aethiops; Choline-Phosphate Cytidylyltransferase; COS Cells; Crystallography, X-Ray; Humans; Lipodystrophy; Mutation; Osteochondrodysplasias; Phosphatidylcholines; Protein Binding; Protein Folding; Protein Stability; Retinal Dystrophies; Retinitis Pigmentosa

2019
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
    American journal of human genetics, 2014, Jan-02, Volume: 94, Issue:1

    Topics: Alleles; Child, Preschool; Choline-Phosphate Cytidylyltransferase; Female; Humans; Infant; Male; Middle Aged; Mutation, Missense; Osteochondrodysplasias; Pedigree; Phosphatidylcholines; Retinitis Pigmentosa

2014
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.
    Clinical genetics, 2014, Volume: 85, Issue:6

    Topics: Choline-Phosphate Cytidylyltransferase; Female; Humans; Male; Mutation, Missense; Osteochondrodysplasias; Phosphatidylcholines; Retinitis Pigmentosa

2014
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
    Proceedings of the National Academy of Sciences of the United States of America, 2010, Aug-31, Volume: 107, Issue:35

    Topics: 1-Acylglycerophosphocholine O-Acyltransferase; Animals; Base Sequence; Blotting, Northern; Chromatography, High Pressure Liquid; Chromosome Mapping; DNA Mutational Analysis; Humans; Immunoblotting; Leber Congenital Amaurosis; Lipids; Mice; Mice, Inbred BALB C; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Inbred DBA; Mice, Inbred Strains; Mice, Mutant Strains; Microscopy, Electron, Transmission; Phosphatidylcholines; Photoreceptor Cells, Vertebrate; Retinal Degeneration; Retinitis Pigmentosa; Reverse Transcriptase Polymerase Chain Reaction

2010
[Biochemical studies on retinitis pigmentosa. 2. Study on plasma lipids of retinitis pigmentosa by thin layer chromatography].
    Nihon ganka kiyo, 1966, Volume: 17, Issue:6

    Topics: Adolescent; Adult; Child; Cholesterol; Chromatography, Thin Layer; Fatty Acids; Humans; Lipids; Metabolic Diseases; Middle Aged; Phosphatidylcholines; Phosphatidylethanolamines; Retinitis Pigmentosa

1966
Biosynthesis of retinal phospholipids: incorporation of radioactivity from labeled phosphorylcholine and cytidine diphosphate choline.
    Journal of lipid research, 1970, Volume: 11, Issue:6

    Topics: Adenosine Triphosphate; Animals; Carbon Isotopes; Choline; Chromatography; Coenzyme A; Cytosine Nucleotides; Glycerides; Lysophosphatidylcholines; Magnesium; Microsomes; Mitochondria; Paper; Phosphatidylcholines; Phosphatidylethanolamines; Phospholipids; Phosphoric Acids; Photoreceptor Cells; Rats; Retina; Retinitis Pigmentosa; Sphingomyelins; Transferases

1970