Detalhe da pesquisa
1.
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.
Hum Mol Genet
; 26(13): 2377-2385, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379354
2.
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
Hum Mol Genet
; 26(22): 4406-4415, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973165
3.
SMN regulates axonal local translation via miR-183/mTOR pathway.
Hum Mol Genet
; 23(23): 6318-31, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25055867
4.
Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.
Hum Mol Genet
; 21(15): 3421-34, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581780
5.
Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype.
JCI Insight
; 8(18)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737261
6.
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.
Neuron
; 111(9): 1423-1439.e4, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863345
7.
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.
J Neurosci
; 30(36): 12005-19, 2010 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826664
8.
Glut1 deficiency syndrome: New and emerging insights into a prototypical brain energy failure disorder.
Neurosci Insights
; 16: 26331055211011507, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589708
9.
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.
Neural Regen Res
; 16(10): 1978-1984, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33642371
10.
Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.
Ann Clin Transl Neurol
; 8(5): 1086-1095, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788421
11.
An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice.
JCI Insight
; 6(3)2021 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351789
12.
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.
Hum Mol Genet
; 17(16): 2552-69, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492800
13.
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Hum Mol Genet
; 17(8): 1063-75, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178576
14.
Spinal muscular atrophy: new and emerging insights from model mice.
Curr Neurol Neurosci Rep
; 10(2): 108-17, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425235
15.
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.
J Clin Invest
; 130(3): 1271-1287, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039917
16.
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Epilepsia Open
; 5(3): 354-365, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32913944
17.
Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.
Neuron
; 48(6): 885-96, 2005 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-16364894
18.
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.
J Cell Biol
; 162(5): 919-31, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12952942
19.
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.
J Cell Biol
; 163(4): 801-12, 2003 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-14623865
20.
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
J Cell Biol
; 160(1): 41-52, 2003 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-12515823