Detalhe da pesquisa
1.
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
EMBO J
; 43(2): 250-276, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38177505
2.
Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
Mol Psychiatry
; 26(11): 6550-6561, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33967268
3.
PLEKHM2 Loss of Function Impairs the Activity of iPSC-Derived Neurons via Regulation of Autophagic Flux.
Int J Mol Sci
; 23(24)2022 Dec 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36555735
4.
Oligodendrocyte progenitor cell maturation is dependent on dual function of MCT8 in the transport of thyroid hormone across brain barriers and the plasma membrane.
Glia
; 69(9): 2146-2159, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33956384
5.
An isogenic blood-brain barrier model comprising brain endothelial cells, astrocytes, and neurons derived from human induced pluripotent stem cells.
J Neurochem
; 140(6): 874-888, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27935037
6.
The light-induced transcriptome of the zebrafish pineal gland reveals complex regulation of the circadian clockwork by light.
Nucleic Acids Res
; 42(6): 3750-67, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24423866
7.
Chronic and acute exposure to rotenone reveals distinct Parkinson's disease-related phenotypes in human iPSC-derived peripheral neurons.
Free Radic Biol Med
; 213: 164-173, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38246514
8.
Sodium Phenylbutyrate Rescues Thyroid Hormone Transport in Brain Endothelial-Like Cells.
Thyroid
; 32(7): 860-870, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35357974
9.
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Thyroid
; 32(7): 849-859, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35350867
10.
P450 oxidoreductase regulates barrier maturation by mediating retinoic acid metabolism in a model of the human BBB.
Stem Cell Reports
; 17(9): 2050-2063, 2022 09 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35961311
11.
Parkinson's disease outside the brain: targeting the autonomic nervous system.
Lancet Neurol
; 20(10): 868-876, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34536407
12.
Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia.
Stem Cell Res
; 55: 102495, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34419746
13.
Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A).
Stem Cell Res
; 51: 102178, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33482465
14.
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative.
Stem Cell Res
; 48: 101975, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32905996
15.
Generation of a Human iPSC-Based Blood-Brain Barrier Chip.
J Vis Exp
; (157)2020 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32176199
16.
Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene.
Stem Cell Res
; 48: 101955, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32822965
17.
Human iPSC-Derived Blood-Brain Barrier Chips Enable Disease Modeling and Personalized Medicine Applications.
Cell Stem Cell
; 24(6): 995-1005.e6, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31173718
18.
SnapShot: Autonomic nervous system disorders.
Neuron
; 110(8): 1432-1432.e1, 2022 04 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35447099
19.
Huntington's Disease iPSC-Derived Brain Microvascular Endothelial Cells Reveal WNT-Mediated Angiogenic and Blood-Brain Barrier Deficits.
Cell Rep
; 19(7): 1365-1377, 2017 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28514657
20.
Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.
Cell Stem Cell
; 20(6): 831-843.e5, 2017 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28526555