Detalhe da pesquisa
1.
Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription.
Cell
; 178(5): 1159-1175.e17, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442405
2.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
3.
Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.
Cell
; 160(6): 1087-98, 2015 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25768905
4.
miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.
Genes Dev
; 34(17-18): 1147-1160, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763910
5.
Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.
EMBO J
; 42(11): e112721, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070548
6.
Pumilio proteins utilize distinct regulatory mechanisms to achieve complementary functions required for pluripotency and embryogenesis.
Proc Natl Acad Sci U S A
; 117(14): 7851-7862, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198202
7.
Modulation of Pancreatic Neuroendocrine Neoplastic Cell Fate by Autophagy-Mediated Death.
Neuroendocrinology
; 111(10): 965-985, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108790
8.
Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice.
Hum Mol Genet
; 24(7): 1813-23, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432536
9.
The retrotransposon - derived capsid genes PNMA1 and PNMA4 maintain reproductive capacity.
bioRxiv
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798495
10.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv
; 9(7): eade4814, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800428
11.
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.
STAR Protoc
; 3(1): 101150, 2022 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146449
12.
Dual antibody strategy for high-resolution imaging of murine Purkinje cells and their dendrites across multiple layers.
STAR Protoc
; 3(2): 101427, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35707684
13.
Protocol for recording epileptiform discharges of EEG and behavioral seizures in freely moving mice.
STAR Protoc
; 3(2): 101245, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35310070
14.
How to expand the method details in your Cell Press paper with step-by-step STAR Protocols.
STAR Protoc
; 3(3): 101550, 2022 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809237
15.
Protocol to assess the effect of disease-driving variants on mouse brain morphology and primary hippocampal neurons.
STAR Protoc
; 3(2): 101244, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35310074
16.
Determining the effects of loss of function mutations in human cell lines.
STAR Protoc
; 3(2): 101232, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35310075
17.
Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements.
BMC Genomics
; 11: 151, 2010 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20202189
18.
miRNeye: a microRNA expression atlas of the mouse eye.
BMC Genomics
; 11: 715, 2010 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21171988
19.
RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins.
Cell Rep
; 25(3): 726-736.e7, 2018 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30332651
20.
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
Elife
; 42015 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26312503