Compounds > 3-methylglutaconic acid
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3-methylglutaconic acid and Hereditary Optic Atrophy

3-methylglutaconic acid has been researched along with Hereditary Optic Atrophy in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Anikster, Y; Dorward, H; Feldman, B; Gahl, WA; Huizing, M; Kleta, R; Klootwijk, E; Ly, L; Pei, W; Skovby, F1
Gadoth, N; Kesler, A; Straussberg, R1
Anikster, Y; Elpeleg, O; Gahl, WA; Kleta, R; Shaag, A1
Ben-Ezra, D; Elpeleg, ON; Raz, J; Sheffer, RN; Zlotogora, J1

Other Studies

4 other study(ies) available for 3-methylglutaconic acid and Hereditary Optic Atrophy

ArticleYear
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
    Molecular genetics and metabolism, 2010, Volume: 100, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Exons; Glutarates; Humans; Mitochondria; Molecular Sequence Data; Optic Atrophies, Hereditary; Proteins; Sequence Alignment

2010
3-Methylglutaconic aciduria: a new metabolic disorder associated with early onset optic atrophy.
    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 1997, Volume: 17, Issue:4

    Topics: Age of Onset; Female; Glutarates; Humans; Infant; Male; Optic Atrophies, Hereditary

1997
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
    American journal of human genetics, 2001, Volume: 69, Issue:6

    Topics: Amino Acid Sequence; Base Sequence; Cloning, Molecular; Conserved Sequence; DNA Mutational Analysis; Exons; Female; Founder Effect; Gene Expression Profiling; Genetic Testing; Glutarates; Humans; Introns; Iraq; Jews; Male; Molecular Sequence Data; Open Reading Frames; Optic Atrophies, Hereditary; Point Mutation; Proteins; RNA, Messenger; Syndrome

2001
Behr's syndrome and 3-methylglutaconic aciduria.
    American journal of ophthalmology, 1992, Oct-15, Volume: 114, Issue:4

    Topics: Child; Child, Preschool; Female; Glutarates; Humans; Infant; Jews; Male; Meglutol; Nervous System Diseases; Nystagmus, Pathologic; Optic Atrophies, Hereditary; Syndrome; Visual Acuity

1992