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.
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
6.
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
PLoS Genet
; 8(10): e1002965, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071445
7.
Cex1 is a component of the COPI intracellular trafficking machinery.
Biol Open
; 10(3)2021 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753324
8.
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
9.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
J Neurol
; 266(2): 353-360, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515627
10.
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
J Clin Invest
; 127(12): 4477-4487, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130937
11.
Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants.
PLoS One
; 9(2): e90072, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24587212
12.
Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis.
PLoS One
; 8(4): e61147, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23577202
13.
Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes.
Mol Biol Cell
; 23(20): 4054-64, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22918958
14.
Structure of a d(TGGGGT) quadruplex crystallized in the presence of Li+ ions.
Acta Crystallogr D Biol Crystallogr
; 63(Pt 6): 682-8, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17505106
15.
Contributions of the RNA-binding and linker domains and RNA structure to the specificity and affinity of the nucleolin RBD12/NRE interaction.
Biochemistry
; 43(22): 6937-47, 2004 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-15170331
16.
Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1.
J Biol Chem
; 277(25): 23028-36, 2002 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-11948190