Detalhe da pesquisa
1.
Neurons contribute to pathology in a mouse model of Krabbe disease in a cell-autonomous manner.
PLoS Biol
; 20(7): e3001706, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35793314
2.
Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy.
Brain
; 147(4): 1457-1473, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066620
3.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
4.
The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling.
Cereb Cortex
; 27(3): 1732-1747, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334068
5.
Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency.
Neurobiol Dis
; 94: 157-68, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353294
6.
Axonal pathology in Krabbe's disease: The cytoskeleton as an emerging therapeutic target.
J Neurosci Res
; 94(11): 1037-41, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638589
7.
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.
J Inherit Metab Dis
; 38(1): 111-21, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432520
8.
Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease.
Neurobiol Dis
; 66: 92-103, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607884
9.
The importance of ether-phospholipids: a view from the perspective of mouse models.
Biochim Biophys Acta
; 1822(9): 1501-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22659211
10.
HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease.
Front Mol Neurosci
; 16: 1231659, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37588057
11.
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.
Proc Natl Acad Sci U S A
; 105(46): 17712-7, 2008 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19004801
12.
Plasmalogens regulate the AKT-ULK1 signaling pathway to control the position of the axon initial segment.
Prog Neurobiol
; 205: 102123, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302896
13.
Plasmalogens participate in very-long-chain fatty acid-induced pathology.
Brain
; 132(Pt 2): 482-92, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19022859
14.
Profilin 1 delivery tunes cytoskeletal dynamics toward CNS axon regeneration.
J Clin Invest
; 130(4): 2024-2040, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31945017
15.
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.
Brain Pathol
; 29(5): 622-639, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667116
16.
Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids.
Int J Oncol
; 32(5): 1011-9, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425327
17.
Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.
Brain Pathol
; 28(5): 631-643, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341299
18.
Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites.
Mitochondrion
; 39: 51-59, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866057
19.
The Actin-Binding Protein α-Adducin Is Required for Maintaining Axon Diameter.
Cell Rep
; 15(3): 490-498, 2016 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068466
20.
Myelin Lipids Inhibit Axon Regeneration Following Spinal Cord Injury: a Novel Perspective for Therapy.
Mol Neurobiol
; 53(2): 1052-1064, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25579385