Rita-Eva. Varga, et.al., In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11., PLoS genetics, 2015, 11

http://rdf.ncbi.nlm.nih.gov/pubmed/26284655

http://rdf.ncbi.nlm.nih.gov/pubmed/26284655

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• astrocytosis_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0003354I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal gait_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0001406I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal corticospinal tract morphology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0002878I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• neuron degeneration_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0003224I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• ataxia_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0001393I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal neuron morphology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0002882I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• axon degeneration_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0005405I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal hippocampus pyramidal cell morphology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0009940I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• motor neuron degeneration_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0000938I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal lysosome morphology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0005058I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal Purkinje cell morphology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0000877I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal lysosome physiology_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0003172I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• abnormal autophagy_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0008260I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• weight loss_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0001263I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• brain atrophy_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0012506I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• impaired coordination_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0001405I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• Purkinje cell degeneration_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0000876I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu
• decreased brain weight_Spg11<Gt(EUCE0085f05)Hmgu>/Spg11<Gt(EUCE0085f05)Hmgu>
  http://metadb.riken.jp/0002175I129P2OlaHsdC57BL6Spg11GtEUCE0085f05HmguSpg11GtEUCE0085f05HmguSpg11GtEUCE0085f05Hmgu