Francesca. Maltecca, et.al., Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009, 29

http://rdf.ncbi.nlm.nih.gov/pubmed/19625515

Francesca. Maltecca, et.al., Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009, 29

pubmed

表現型アノテーション

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

• gliosis_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0002183IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• astrocytosis_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0003354IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal cerebellar granule layer morphology_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0000886IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• thin cerebellar molecular layer_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0000890IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal mitochondrial ATP synthesis coupled electron transport_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0010956IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal Purkinje cell dendrite morphology_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0008572IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal respiratory electron transport chain_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0010955IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal cerebellar granule cell morphology_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0004098IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal locomotor activation_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0003313IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal mitochondrial crista morphology_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0011635IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• Purkinje cell degeneration_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0000876IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• impaired balance_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0001525IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• impaired coordination_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0001405IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• oxidative stress_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0003674IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal mitochondrion morphology_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0006035IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• increased mitochondria size_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0011630IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• abnormal gait_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0001406IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• limb grasping_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0001513IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2
• thin cerebellar granule layer_Afg3l2<Emv66>/Afg3l2<+>
  http://metadb.riken.jp/0006099IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2

トランスクリプトームデータ

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

• CD22433
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD22433