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Descriptor English: Ataxins
Descriptor Spanish: Ataxinas
Descriptor ataxinas
Entry term(s) ataxina
proteína ataxina
proteína de la ataxia espinocerebelosa
Scope note: Una familia de proteínas predominantemente nucleares que regulan la transcripción de genes y la degradación de proteínas. La expansión de repeticiones del trinucleótido CAG en los genes que codifican Ataxinas se asocia con las ATAXIAS ESPINOCEREBELOSAS (AEC). En pacientes de AEC, el número de repeticiones de CAG se correlaciona con la gravedad de la enfermedad e inversamente correlacionada con la edad de aparición de la enfermedad.
Descriptor Portuguese: Ataxinas
Descriptor French: Ataxines
Entry term(s): Protéines des ataxies spinocérébelleuses
Tree number(s): D12.776.631.069
D12.776.660.075
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000067528
Scope note: A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset.
Allowable Qualifiers: AD administration et posologie
AE effets indésirables
AG agonistes
AI antagonistes et inhibiteurs
AN analyse
BI biosynthèse
BL sang
CF liquide cérébrospinal
CH composition chimique
CL classification
CS synthèse chimique
DE effets des médicaments et des substances chimiques
DF déficit
EC économie
GE génétique
HI histoire
IM immunologie
IP isolement et purification
ME métabolisme
PD pharmacologie
PH physiologie
PK pharmacocinétique
PO intoxication
RE effets des radiations
SD ressources et distribution
ST normes
TO toxicité
TU usage thérapeutique
UL ultrastructure
UR urine
Related: Ataxies spinocérébelleuses MeSH
DeCS ID: 56001
Unique ID: D000067528
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2016/01/01
Date of Entry: 2015/07/06
Revision Date: 2020/05/27
Ataxines - Preferred
Concept UI M000599991
Preferred term Ataxines
Entry term(s) Protéines des ataxies spinocérébelleuses



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