Detalhe da pesquisa
1.
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Hum Mol Genet
; 31(9): 1389-1406, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761259
2.
RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour.
Mol Psychiatry
; 26(11): 6531-6549, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34035473
3.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Am J Hum Genet
; 86(2): 185-95, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159109
4.
Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse.
Metabolism
; 116: 154463, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309713
5.
Critical importance of RAB proteins for synaptic function.
Small GTPases
; 9(1-2): 145-157, 2018 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28146371
6.
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Parkinsonism Relat Disord
; 44: 142-146, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851564
7.
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
Nat Commun
; 6: 6504, 2015 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25784538
8.
RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions.
Neurosci Biobehav Rev
; 46 Pt 2: 302-14, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24412241