Detalhe da pesquisa
1.
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 606(7916): 945-952, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732742
2.
Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 608(7924): E34, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945277
3.
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Acta Neuropathol
; 136(3): 425-443, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725819
4.
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Acta Neuropathol Commun
; 11(1): 164, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845749
5.
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Mol Genet Genomic Med
; 9(12): e1745, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263556
6.
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Acta Neuropathol Commun
; 9(1): 194, 2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922620
7.
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Heliyon
; 6(6): e04165, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577562
8.
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia
; 50(5): 1167-75, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19128417
9.
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Adv Neurobiol
; 20: 265-281, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29916023
10.
Unwinding the role of senataxin in neurodegeneration.
Discov Med
; 19(103): 127-36, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25725227
11.
Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
Am J Med Genet
; 107(3): 190-6, 2002 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807898
12.
Microtubule defects & Neurodegeneration.
J Genet Syndr Gene Ther
; 4: 203, 2013 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24563812
13.
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
PLoS One
; 8(11): e78837, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24244371
14.
Litaf/Simple protein is increased in intestinal tissues from patients with CD and UC, but is unlikely to function as a transcription factor.
Inflamm Bowel Dis
; 13(1): 120-1, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17206649
15.
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
Chin Med J (Engl)
; 123(22): 3326-33, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21163139
16.
Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics.
Neuron
; 66(6): 835-47, 2010 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20620870
17.
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Neurobiol Dis
; 23(1): 97-108, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16644229
18.
SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.
J Neurosci Res
; 82(1): 43-50, 2005 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16118794
19.
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
Am J Med Genet A
; 125A(2): 117-24; discussion 117, 2004 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981711
20.
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia
; 44(12): 1529-35, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14636323