Diseases

Displaying all 12 entries
Protein Name Gene Name Uniprot ID Disease Name References
Lysosomal alpha-glucosidase Gaa P70699 Axonal neuropathy McCabe, D. J. et al. (Arch Neurol, 2002)
Lysosomal alpha-glucosidase Gaa Q6P7A9 Axonal neuropathy McCabe, D. J. et al. (Arch Neurol, 2002)
DNA topoisomerase 1 Top1 Q04750 Axonal neuropathy Katyal, S. et al. (Nat Neurosci, 2014)
Myelin protein P0 Mpz P06907 Axonal neuropathy
Alanine--tRNA ligase, cytoplasmic Aars Q8BGQ7 Axonal neuropathy Bansagi, B. et al. (J Neurol, 2015)
Serine/threonine-protein kinase VRK1 Vrk1 Q80X41 Axonal neuropathy Gonzaga-Jauregui, C. et al. (JAMA Neurol, 2013)
Vimentin VIM M3YJK3 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim P20152 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim P31000 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim Q5FWJ3 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Glial fibrillary acidic protein Gfap P03995 GIANT AXONAL NEUROPATHY 1 Johnson-Kerner, B. L. et al. (Hum Mol Genet, 2015)
DNA topoisomerase 1 Top1 Q04750 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY Miao, Z. H. et al. (DNA Repair (Amst), 2006)