Detalhe da pesquisa
1.
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies.
Biochem Soc Trans
; 52(1): 465-479, 2024 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38391004
2.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33232675
3.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33764426
4.
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.
Hum Mol Genet
; 27(16): 2851-2862, 2018 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29790918
5.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
6.
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Genome Med
; 13(1): 162, 2021 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34663447
7.
The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1.
Front Cell Dev Biol
; 8: 592164, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33102493
8.
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy.
Nat Cell Biol
; 22(10): 1239-1251, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32958857
9.
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Front Cell Neurosci
; 13: 352, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31417368
10.
Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells.
Cell Stem Cell
; 23(2): 276-288.e8, 2018 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30033119
11.
Active Ribosome Profiling with RiboLace.
Cell Rep
; 25(4): 1097-1108.e5, 2018 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-30355487
12.
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.
Cell Rep
; 21(4): 953-965, 2017 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-29069603