Detalhe da pesquisa
1.
Convergence of mammalian RQC and C-end rule proteolytic pathways via alanine tailing.
Mol Cell
; 81(10): 2112-2122.e7, 2021 05 20.
Artigo
Inglês
| MEDLINE | ID: mdl-33909987
2.
Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Hum Mol Genet
; 32(8): 1276-1288, 2023 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36413117
3.
From ER to Eph receptors: new roles for VAP fragments.
Cell
; 133(6): 949-51, 2008 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-18555770
4.
Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.
Hum Mol Genet
; 28(16): 2635-2647, 2019 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31216357
5.
A direct HDAC4-MAP kinase crosstalk activates muscle atrophy program.
Mol Cell
; 47(1): 122-32, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22658415
6.
Development-on-chip: in vitro neural tube patterning with a microfluidic device.
Development
; 143(11): 1884-92, 2016 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27246712
7.
Effect of genetic background on the dystrophic phenotype in mdx mice.
Hum Mol Genet
; 25(1): 130-45, 2016 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26566673
8.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25917818
9.
Analysis of BMAA enantiomers in cycads, cyanobacteria, and mammals: in vivo formation and toxicity of D-BMAA.
Amino Acids
; 49(8): 1427-1439, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28620737
10.
Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function.
Cereb Cortex
; 25(11): 4259-72, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25596590
11.
Choline kinase beta is required for normal endochondral bone formation.
Biochim Biophys Acta
; 1840(7): 2112-22, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24637075
12.
Ankyrin repeat domain protein 2 and inhibitor of DNA binding 3 cooperatively inhibit myoblast differentiation by physical interaction.
J Biol Chem
; 288(34): 24560-8, 2013 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-23824195
13.
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6.
Hum Mol Genet
; 21(12): 2807-14, 2012 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22442204
14.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet
; 88(6): 845-851, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21665002
15.
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
Hum Mol Genet
; 20(19): 3841-51, 2011 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21750112
16.
Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease.
PLoS One
; 17(9): e0274615, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36107978
17.
Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse.
Biochim Biophys Acta
; 1801(4): 446-54, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20026284
18.
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
Hum Mol Genet
; 18(12): 2115-26, 2009 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19299493
19.
Anisotropic regulation of Ankrd2 gene expression in skeletal muscle by mechanical stretch.
FASEB J
; 24(9): 3330-40, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20442316
20.
Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn2B/- mouse model of spinal muscular atrophy.
Exp Neurol
; 337: 113587, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33382987