Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P20226 (
TATA-binding protein
)
1,297
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Hereditary spinocerebellar ataxia type 17 (SCA17) is an autosomal dominantly inherited progressive
degenerative disease
of the nervous system. Also known as Huntington's disease-like 4(
HDL4
), SCA17 mainly features ataxia, muscle dystonia and psychiatric symptoms. The gene predisposing to SCA17 has been mapped and cloned, which encodes a
TATA-binding protein
(
TBP
). A CAG repeat expansion in the coding region of
TBP
gene can cause polyglutamine chain extension in the protein. This paper reviews recent progress in the research on SCA17 in regard to its clinical, etiology, pathology and pathogenesis.
...
PMID:[Advance in research on spinocerebellar ataxia 17]. 2451 May 61
