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glycine and Electron Transport Chain Deficiencies, Mitochondrial

glycine has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 7 studies

Research Excerpts

ExcerptRelevanceReference
"Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined."7.72Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004)
"Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined."3.72Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004)
"Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the development of acute cerebral lesions."1.36Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. ( Bindoff, LA; Engelsen, BE; Ersland, L; Moen, G; Mørk, SJ; Neckelmann, G; Tzoulis, C; Viscomi, C; Zeviani, M, 2010)

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (57.14)29.6817
2010's3 (42.86)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Majid, H1
Jafri, L1
Khan, AH1
Ali, ZZ1
Jamil, A1
Yusufzai, N1
Fatimah, M1
Afroze, B1
Jin, LW1
Horiuchi, M1
Wulff, H1
Liu, XB1
Cortopassi, GA1
Erickson, JD1
Maezawa, I1
Tzoulis, C1
Neckelmann, G1
Mørk, SJ1
Engelsen, BE1
Viscomi, C1
Moen, G1
Ersland, L1
Zeviani, M1
Bindoff, LA1
Haut, S1
de Villemeur, TB1
Brivet, M1
Guiochon-Mantel, A1
Boutron, A1
Rustin, P1
Legrand, A1
Slama, A1
Korman, SH1
Kanazawa, N1
Abu-Libdeh, B1
Gutman, A1
Tsujino, S1
Baumgartner, MR1
Dantas, MF1
Suormala, T1
Almashanu, S1
Giunta, C1
Friebel, D1
Gebhardt, B1
Fowler, B1
Hoffmann, GF1
Baumgartner, ER1
Valle, D1
Chan, SS1
Longley, MJ1
Copeland, WC1

Other Studies

7 other studies available for glycine and Electron Transport Chain Deficiencies, Mitochondrial

ArticleYear
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
    JPMA. The Journal of the Pakistan Medical Association, 2018, Volume: 68, Issue:4

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies;

2018
Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015, Feb-11, Volume: 35, Issue:6

    Topics: Adenosine Triphosphate; Amino Acid Transport System A; Animals; Glutamic Acid; Glycine; Methyl-CpG-B

2015
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
    Brain : a journal of neurology, 2010, Volume: 133, Issue:Pt 5

    Topics: Arginine; Brain; Brain Diseases; Cerebellum; Cysteine; Diffuse Cerebral Sclerosis of Schilder; Diffu

2010
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
    European journal of human genetics : EJHG, 2004, Volume: 12, Issue:3

    Topics: Amino Acid Sequence; Aspartic Acid; Child, Preschool; Cytochromes b; DNA, Mitochondrial; Electron Tr

2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
    Journal of the neurological sciences, 2004, Mar-15, Volume: 218, Issue:1-2

    Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arab

2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
    American journal of human genetics, 2004, Volume: 75, Issue:5

    Topics: Alleles; Base Sequence; Biotin; Carbon-Carbon Ligases; DNA Mutational Analysis; Dose-Response Relati

2004
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
    Human molecular genetics, 2006, Dec-01, Volume: 15, Issue:23

    Topics: Amino Acid Sequence; Amino Acid Substitution; Catalytic Domain; DNA; DNA Polymerase gamma; DNA-Direc

2006