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:O76050 (
neu
)
3,969
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by the expansion of polyglutamine (polyQ) in
atrophin-1
(
ATN1
), also known as DRPLA protein.
ATN1
is ubiquitously expressed in the central nervous system (CNS), although selective regions of CNS are degenerated in DRPLA, and this selective neuronal damage gives rise to the specific clinical features of DRPLA. Accumulation of mutant
ATN1
that carries an expanded polyQ tract seems to be the primary cause of DRPLA neurodegeneration, but it is still unclear how the accumulation of
ATN1
leads to
neu
-rodegeneration. Recently, cleaved fragments of
ATN1
were shown to accumulate in the disease models and the brain tissues of patients with DRPLA. Furthermore, proteolytic processing of
ATN1
may regulate the intracellular localization of
ATN1
and its fragments. Therefore, proteolytic processing of
ATN1
may provide clues to disease pathogenesis and hopefully aid in the determination of molecular targets for effective therapeutic approaches for DRPLA.
...
PMID:Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy. 2157 24
