Detalhe da pesquisa
1.
Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum.
Nature
; 618(7964): 394-401, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225996
2.
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Nature
; 618(7964): 402-410, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225994
3.
Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms.
Nature
; 588(7836): 157-163, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239784
4.
The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous manner.
PLoS Biol
; 20(1): e3001526, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35085235
5.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
6.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
7.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Hum Mol Genet
; 31(16): 2693-2710, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313342
8.
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
EMBO J
; 39(17): e105696, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32716134
9.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
10.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Acta Neuropathol
; 147(1): 28, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305941
11.
Bumetanide induces post-traumatic microglia-interneuron contact to promote neurogenesis and recovery.
Brain
; 146(10): 4247-4261, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37082944
12.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
13.
Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.
Cereb Cortex
; 33(10): 5906-5923, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36573432
14.
A limited role of NKCC1 in telencephalic glutamatergic neurons for developing hippocampal network dynamics and behavior.
Proc Natl Acad Sci U S A
; 118(14)2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782119
15.
Slc12a2 loss in insulin-secreting ß-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding.
Am J Physiol Endocrinol Metab
; 325(5): E581-E594, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37819196
16.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
17.
Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control.
EMBO Rep
; 22(9): e52289, 2021 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338405
18.
Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.
Int J Mol Sci
; 24(4)2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834863
19.
Regulation of endoplasmic reticulum turnover by selective autophagy.
Nature
; 522(7556): 354-8, 2015 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040720
20.
DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.
Cereb Cortex
; 30(7): 3921-3937, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147726