Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
2.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Hum Mol Genet
; 31(16): 2693-2710, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313342
3.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Acta Neuropathol
; 147(1): 28, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305941
4.
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.
Neurobiol Dis
; 127: 419-431, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30930081
5.
Thalamic afferents influence cortical progenitors via ephrin A5-EphA4 interactions.
Development
; 142(1): 140-50, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480914
6.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
PLoS Genet
; 11(8): e1005454, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284655
7.
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
PLoS Genet
; 9(12): e1003988, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367272
8.
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
Autophagy
; 17(11): 3690-3706, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33618608
9.
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
Orphanet J Rare Dis
; 10: 147, 2015 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572744
10.
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
J Clin Invest
; 123(10): 4273-82, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24051375
11.
WITHDRAWN: Role of nitrosylaton and farnesylation in the regulation of homocysteine metabolism in PC12 cells.
Neurosci Res
; 2009 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19819578
12.
L-NAME has opposite effects on the productions of S-adenosylhomocysteine and S-adenosylmethionine in V12-H-Ras and M-CR3B-Ras pheochromocytoma cells.
Neurochem Res
; 31(10): 1205-10, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17004132