Detalhe da pesquisa
1.
Neurofilaments: neurobiological foundations for biomarker applications.
Brain
; 143(7): 1975-1998, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32408345
2.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
3.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593267
4.
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
Clin Exp Nephrol
; 22(6): 1251-1257, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29869755
5.
Neuronal Autophagy: Regulations and Implications in Health and Disease.
Cells
; 13(1)2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38201307
6.
Neurofilaments: Novel findings and future challenges.
Curr Opin Cell Biol
; 87: 102326, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401181
7.
Gigaxonin Suppresses Epithelial-to-Mesenchymal Transition of Human Cancer Through Downregulation of Snail.
Cancer Res Commun
; 4(3): 706-722, 2024 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421310
8.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nat Genet
; 36(3): 225-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14770181
9.
Neurofilaments in health and Charcot-Marie-Tooth disease.
Front Cell Dev Biol
; 11: 1275155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164457
10.
A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN.
EMBO Mol Med
; 15(7): e16267, 2023 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37144692
11.
Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases.
Front Mol Neurosci
; 15: 956582, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204134
12.
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Hum Mol Genet
; 18(8): 1384-94, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19168853
13.
The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers.
Curr Opin Cell Biol
; 68: 181-191, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454158
14.
E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Front Physiol
; 11: 1022, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33192535
15.
GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production.
Autophagy
; 15(9): 1650-1652, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31179825
16.
Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production.
Nat Commun
; 10(1): 780, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770803
17.
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
J Clin Invest
; 129(12): 5312-5326, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503551
18.
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.
J Neurochem
; 107(1): 253-64, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18680552
19.
Degradation of the Intermediate Filament Family by Gigaxonin.
Methods Enzymol
; 569: 215-31, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26778561
20.
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Acta Neuropathol Commun
; 2: 47, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24758703