Disease

Spinocerebellar Ataxia Type 3

About the Disease
Machado-Joseph Disease, also known as sca3, is related to olivopontocerebellar atrophy and spinocerebellar ataxia 2, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Deubiquitination and Neuroscience. The drugs Lithium carbonate and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and tongue, and related phenotypes are hyperreflexia and abnormal pyramidal sign

Common Targets
Voltage-Gated Sodium Channel Complex | KCND3 | Sodium channel (nonspecified subtype) | Calpain (nonspecified subtype) | m-Calpain | C9orf72 | DNMT3L | CHRNA7 | Glutamate Transporter (nonspecified subtype) | MECP2 | Chaperone (nonspecified subtype) | DNMT3B | ATXN3 | MBD1 | TET1 | NSUN5 | CAPN1 | G1786 | CTSK | CAPN9 | MTHFR | mu-Calpain (calpain 1) | TRDMT1 | MBD2 | CAPN2 | DNMT3A

疾病靶点研报
Spinocerebellar Ataxia Type 3

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