Page last updated: 2024-11-08

serine and Retinitis Pigmentosa

serine has been researched along with Retinitis Pigmentosa in 10 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Retinitis Pigmentosa: Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.

Research Excerpts

ExcerptRelevanceReference
"Transgenic mice expressing the rhodopsin mutant Pro347Ser (Serine 6) display retinal degeneration through apoptosis that is characteristic of the disease retinitis pigmentosa."3.69Altered cAMP levels in retinas from transgenic mice expressing a rhodopsin mutant. ( Dickerson, CD; Hao, Y; Osawa, S; Shi, W; Weiss, ER; Wong, F; Zhang, L, 1995)
"Night blindness was the first symptom to manifest, with onset between birth and age 16 years."1.32Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. ( Bessant, DA; Bhattacharya, SS; Bird, AC; Fitzke, FW; Holder, GE; Payne, AM, 2003)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19903 (30.00)18.7374
1990's3 (30.00)18.2507
2000's4 (40.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bessant, DA1
Holder, GE1
Fitzke, FW1
Payne, AM1
Bhattacharya, SS2
Bird, AC1
Tetreault, ML1
Horrigan, DM1
Kim, JA1
Zimmerman, AL1
Weiss, ER1
Hao, Y1
Dickerson, CD1
Osawa, S1
Shi, W1
Zhang, L1
Wong, F1
Richards, SC1
Creel, DJ1
Saga, M1
Mashima, Y1
Akeo, K1
Oguchi, Y1
Kudoh, J1
Shimizu, N1
Trujillo, MJ1
Garcia-Sandoval, B1
Lorda-Sanchez, I1
Gimenez, A1
Sanz, R1
Gonzalez-Gonzalez, MC1
IbaƱez, A1
Ramos, C1
Ayuso, C1
Newbold, RJ1
Deery, EC1
Walker, CE1
Wilkie, SE1
Srinivasan, N1
Hunt, DM1
Warren, MJ1
Hultberg, B1
Ockerman, PA1
Eriksson, O1
Onisawa, J1
Lee, TY1
Taniguchi, N1

Other Studies

10 other studies available for serine and Retinitis Pigmentosa

ArticleYear
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2003, Volume: 121, Issue:6

    Topics: Adolescent; Adult; Basic-Leucine Zipper Transcription Factors; Child; Dark Adaptation; DNA-Binding P

2003
Retinoids restore normal cyclic nucleotide sensitivity of mutant ion channels associated with cone dystrophy.
    Molecular vision, 2006, Dec-29, Volume: 12

    Topics: Animals; Asparagine; Cattle; Cyclic GMP; Cyclic Nucleotide-Gated Cation Channels; Humans; Ion Channe

2006
Altered cAMP levels in retinas from transgenic mice expressing a rhodopsin mutant.
    Biochemical and biophysical research communications, 1995, Nov-22, Volume: 216, Issue:3

    Topics: Animals; Apoptosis; Cyclic AMP; Guanosine 5'-O-(3-Thiotriphosphate); Mice; Mice, Transgenic; Mutatio

1995
Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
    Retina (Philadelphia, Pa.), 1995, Volume: 15, Issue:1

    Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 6; Eye Proteins;

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; Electrophoresi

1993
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
    Ophthalmic genetics, 2000, Volume: 21, Issue:4

    Topics: Adult; DNA Mutational Analysis; Electroretinography; Female; Fundus Oculi; Genes, Dominant; Genotype

2000
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
    Human molecular genetics, 2001, Jan-01, Volume: 10, Issue:1

    Topics: Amino Acid Sequence; Animals; Calcium; Calcium-Binding Proteins; Cell Line; Circular Dichroism; Clon

2001
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
    Metabolism: clinical and experimental, 1969, Volume: 18, Issue:8

    Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dif

1969
Biochemical studies of urinary acid mucopolysaccharide--peptide complexes in Hurler's syndrome.
    Biochemical medicine, 1970, Volume: 3, Issue:5

    Topics: Amino Acids; Aspartic Acid; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Pr

1970
Age differences in the pattern of urinary glycosaminoglycan excretion in normal individuals.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 37

    Topics: Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Chondroitin; Chromatography, Gas; Chr

1972