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Diseases

Displaying all 11 entries
Neurological diseases (11) Non-neurological diseases (0)
Glia Protein / Neurological Diseases
Protein Name Gene Name Uniprot ID Disease Name References
Collagen alpha-1(IV) chain Col4a1 P02463 Mitochondrial Diseases Livingston, J. H. et al. (Dev Med Child Neurol, 2013)
Superoxide dismutase [Mn], mitochondrial Sod2 P07895 Mitochondrial Diseases Wei, Y. H. et al. (Chin J Physiol, 2001), Yen, H. C. et al. (Arch Biochem Biophys, 1999)
Adenine phosphoribosyltransferase Aprt P08030 Mitochondrial Diseases Bokko, P. B. et al. (Mol Biol Cell, 2007), Carilla-Latorre, S. et al. (Mol Biol Cell, 2013)
Adenine phosphoribosyltransferase Aprt P36972 Mitochondrial Diseases Bokko, P. B. et al. (Mol Biol Cell, 2007), Carilla-Latorre, S. et al. (Mol Biol Cell, 2013)
Arylsulfatase A Arsa P50428 Mitochondrial Diseases Anlar, B. et al. (Dev Med Child Neurol, 2006)
Malate dehydrogenase MDH2 M3YX34 Mitochondrial Diseases Ait-El-Mkadem, S. et al. (Am J Hum Genet, 2017)
Malate dehydrogenase, mitochondrial Mdh2 P08249 Mitochondrial Diseases Ait-El-Mkadem, S. et al. (Am J Hum Genet, 2017)
Malate dehydrogenase, mitochondrial Mdh2 P04636 Mitochondrial Diseases Ait-El-Mkadem, S. et al. (Am J Hum Genet, 2017)
Quinone oxidoreductase Cryz P47199 Mitochondrial Diseases Chadderton, N. et al. (Eur J Hum Genet, 2013)
Putative transferase CAF17 homolog, mitochondrial Iba57 Q8CAK1 Mitochondrial Diseases Ajit Bolar, N. et al. (Hum Mol Genet, 2013), Debray, F. G. et al. (J Inherit Metab Dis, 2015)
Probable asparagine--tRNA ligase, mitochondrial Nars2 Q8BGV0 Mitochondrial Diseases
Vanlander, A. V. et al. (Hum Mutat, 2015) and 2 others