Detalhe da pesquisa
1.
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Am J Hum Genet
; 110(3): 531-547, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809767
2.
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.
Hum Mol Genet
; 31(11): 1776-1787, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908112
3.
A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Adv Exp Med Biol
; 1415: 335-340, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440053
4.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Hum Genet
; 137(6-7): 447-458, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978320
5.
Glucotoxicity promotes aberrant activation and mislocalization of Ras-related C3 botulinum toxin substrate 1 [Rac1] and metabolic dysfunction in pancreatic islet ß-cells: reversal of such metabolic defects by metformin.
Apoptosis
; 22(11): 1380-1393, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28828705
6.
TopoisomeraseIIß in HIV-1 transactivation.
Arch Biochem Biophys
; 593: 90-7, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26876283
7.
Evolutionary and molecular facts link the WWC protein family to Hippo signaling.
Mol Biol Evol
; 31(7): 1710-23, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24682284
8.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Sci Rep
; 14(1): 570, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177237
9.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
bioRxiv
; 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808686
10.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
J Genet Genomics
; 49(7): 654-665, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896608
11.
Topoisomerase IIß associates with Ku70 and PARP-1 during double strand break repair of DNA in neurons.
Arch Biochem Biophys
; 516(2): 128-37, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019940
12.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Nat Commun
; 12(1): 3332, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099697
13.
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
Aging Cell
; 18(6): e13011, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31385385
14.
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Sci Rep
; 14(1): 10103, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38698036
15.
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Hum Gene Ther
; 30(5): 632-650, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30499344
16.
Analysis of gene expression during aging of CGNs in culture: implication of SLIT2 and NPY in senescence.
Age (Dordr)
; 37(3): 62, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26047956
17.
Erratum to: Analysis of gene expression during aging of CGNs in culture: implication of SLIT2 and NPY in senescence.
Age (Dordr)
; 37(4): 9810, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26143868