Detalhe da pesquisa
1.
Coatopathies: Genetic Disorders of Protein Coats.
Annu Rev Cell Dev Biol
; 35: 131-168, 2019 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31399000
2.
Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development.
J Neurosci Res
; 99(1): 67-89, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436302
3.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
4.
Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes.
J Biol Chem
; 289(48): 33513-28, 2014 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25324551
5.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Nat Genet
; 35(1): 84-9, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12923531
6.
Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3.
Traffic
; 11(5): 579-86, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20102546
7.
Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.
Hum Mol Genet
; 19(5): 861-78, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20015953
8.
The building BLOC(k)s of lysosomes and related organelles.
Curr Opin Cell Biol
; 16(4): 458-64, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15261680
9.
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Mol Biol Cell
; 18(3): 768-80, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17182842
10.
Melanosome biogenesis: shedding light on the origin of an obscure organelle.
Trends Cell Biol
; 13(10): 503-6, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14507476
11.
Bad signals jam organelle traffic.
Nat Med
; 13(1): 31-2, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17206132
12.
BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.
Mol Biol Cell
; 17(9): 4027-38, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16837549
13.
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Mol Genet Metab
; 93(2): 134-44, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17933573
14.
Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency.
Front Neurosci
; 12: 759, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30498428
15.
Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.
Biochem J
; 395(3): 587-98, 2006 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16448387
16.
Immunoprecipitation.
Curr Protoc Cell Biol
; 712016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245424
17.
Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.
PLoS One
; 10(11): e0143026, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26565960
18.
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Nat Genet
; 44(7): 788-92, 2012 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22634751
19.
Melanosomes made from recycling (endosomes): A tubule-stabilizing function revealed for Biogenesis of Lysosome-related Organelles Complex-1.
Pigment Cell Melanoma Res
; 29(3): 258-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801347
20.
Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade.
ASN Neuro
; 3(2)2011 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21504412