Detalhe da pesquisa
1.
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Mov Disord
; 37(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820905
2.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Proc Natl Acad Sci U S A
; 114(44): E9308-E9317, 2017 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29078390
3.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116475
4.
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Hum Mol Genet
; 26(19): 3736-3748, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934386
5.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
6.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat
; 39(7): 983-992, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688594
7.
Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells.
Methods
; 113: 91-104, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27725303
8.
Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins.
J Cell Sci
; 128(4): 706-16, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512335
9.
Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways.
Int J Mol Sci
; 18(3)2017 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28294977
10.
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
PLoS Genet
; 8(10): e1002965, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071445
11.
Membrane trafficking in the yeast Saccharomyces cerevisiae model.
Int J Mol Sci
; 16(1): 1509-25, 2015 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25584613
12.
Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism.
BMC Genomics
; 13: 297, 2012 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22748146
13.
The Saccharomyces cerevisiae flavodoxin-like proteins Ycp4 and Rfs1 play a role in stress response and in the regulation of genes related to metabolism.
Arch Microbiol
; 193(7): 515-25, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21442317
14.
Cex1 is a component of the COPI intracellular trafficking machinery.
Biol Open
; 10(3)2021 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753324
15.
Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals-Illustrated with Four Actin Cytoskeleton Proteins.
Cells
; 9(3)2020 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32164332
16.
Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP.
Elife
; 92020 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657755
17.
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
EMBO Mol Med
; 12(7): e11861, 2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500975
18.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Eur J Hum Genet
; 28(10): 1403-1413, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467598
19.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
J Exp Med
; 217(12)2020 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32766723
20.
Ent3p Is a PtdIns(3,5)P2 effector required for protein sorting to the multivesicular body.
Dev Cell
; 5(3): 499-511, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12967568