Detalhe da pesquisa
1.
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.
Hum Mol Genet
; 30(1): 87-102, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517424
2.
Limited time window for retinal gene therapy in a preclinical model of ciliopathy.
Hum Mol Genet
; 29(14): 2337-2352, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32568387
3.
The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.
J Biol Chem
; 294(50): 19119-19136, 2019 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694913
4.
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.
PLoS Genet
; 13(10): e1007057, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29049287
5.
Photoreceptor outer segment as a sink for membrane proteins: hypothesis and implications in retinal ciliopathies.
Hum Mol Genet
; 26(R1): R75-R82, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28453661
6.
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.
Proc Natl Acad Sci U S A
; 112(32): E4400-9, 2015 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26216965
7.
Gadd45a Protein Promotes Skeletal Muscle Atrophy by Forming a Complex with the Protein Kinase MEKK4.
J Biol Chem
; 291(34): 17496-17509, 2016 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358404
8.
INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
J Cell Sci
; 128(2): 364-72, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395580
9.
A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling.
PLoS Genet
; 10(10): e1004689, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340710
10.
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
PLoS Genet
; 10(2): e1004083, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550735
11.
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Hum Mol Genet
; 23(1): 40-51, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943788
12.
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
Proc Natl Acad Sci U S A
; 109(48): 19691-6, 2012 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23150559
13.
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Hum Mol Genet
; 21(9): 1945-53, 2012 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22228099
14.
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
PLoS Genet
; 7(11): e1002358, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072986
15.
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Proc Natl Acad Sci U S A
; 108(51): 20678-83, 2011 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139371
16.
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system.
bioRxiv
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645107
17.
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
J Biol Chem
; 287(24): 20625-35, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22500027
18.
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Proc Natl Acad Sci U S A
; 107(4): 1488-93, 2010 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20080638
19.
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.
Mol Ther Nucleic Acids
; 31: 164-181, 2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700052
20.
PDE6D binds to the C-terminus of RPGR in a prenylation-dependent manner.
EMBO Rep
; 16(12): 1581-2, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26553938