Detalhe da pesquisa
1.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Hum Genet
; 142(8): 1055-1076, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37199746
2.
NURR1-deficient mice have age- and sex-specific behavioral phenotypes.
J Neurosci Res
; 100(9): 1747-1754, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35593070
3.
Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model.
Behav Brain Funct
; 18(1): 8, 2022 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35933444
4.
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
Glia
; 69(10): 2419-2428, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34139039
5.
Role of ß3-adrenergic receptor in the modulation of synaptic transmission and plasticity in mouse cerebellar cortex.
J Neurosci Res
; 98(11): 2263-2274, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33174240
6.
GIRK1-Mediated Inwardly Rectifying Potassium Current Is a Candidate Mechanism Behind Purkinje Cell Excitability, Plasticity, and Neuromodulation.
Cerebellum
; 19(6): 751-761, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32617840
7.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30389403
8.
Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia.
Glia
; 66(9): 1929-1946, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29732603
9.
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Ann Neurol
; 82(4): 615-621, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28976605
10.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Am J Hum Genet
; 95(2): 209-17, 2014 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25065913
11.
Maturation, Refinement, and Serotonergic Modulation of Cerebellar Cortical Circuits in Normal Development and in Murine Models of Autism.
Neural Plast
; 2017: 6595740, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28894610
12.
Impaired firing properties of dentate granule neurons in an Alzheimer's disease animal model are rescued by PPARγ agonism.
J Neurophysiol
; 113(6): 1712-26, 2015 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25540218
13.
Peripheral adipose tissue insulin resistance alters lipid composition and function of hippocampal synapses.
J Neurochem
; 133(1): 125-33, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25640170
14.
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
J Med Genet
; 50(8): 543-51, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23749989
15.
Motor dysfunction and cerebellar Purkinje cell firing impairment in Ebf2 null mice.
Mol Cell Neurosci
; 52: 51-61, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23000673
16.
Differential diagnosis of unipolar versus bipolar depression by GSK3 levels in peripheral blood: a pilot experimental study.
Int J Bipolar Disord
; 11(1): 33, 2023 Oct 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37807001
17.
Maternal treatment with sodium butyrate reduces the development of autism-like traits in mice offspring.
Biomed Pharmacother
; 156: 113870, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36274465
18.
The GPR17 receptor in NG2 expressing cells: focus on in vivo cell maturation and participation in acute trauma and chronic damage.
Glia
; 59(12): 1958-73, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21956849
19.
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Front Neuroanat
; 15: 669073, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33994961
20.
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.
BMC Neurosci
; 11: 55, 2010 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-20426821