Detalhe da pesquisa
1.
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Amino Acids
; 54(5): 777-786, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35098378
2.
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Blood
; 131(9): 1000-1011, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29187380
3.
Proteomic navigation using proximity-labeling.
Methods
; 164-165: 67-72, 2019 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30953756
4.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet
; 95(5): 615-626, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30653653
5.
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
Acta Neuropathol
; 137(3): 487-500, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30604225
6.
Characterization of Two Distinct Nucleosome Remodeling and Deacetylase (NuRD) Complex Assemblies in Embryonic Stem Cells.
Mol Cell Proteomics
; 15(3): 878-91, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26714524
7.
Prmt5 is essential for early mouse development and acts in the cytoplasm to maintain ES cell pluripotency.
Genes Dev
; 24(24): 2772-7, 2010 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21159818
8.
Mechanisms controlling the temporal degradation of Nek2A and Kif18A by the APC/C-Cdc20 complex.
EMBO J
; 32(2): 303-14, 2013 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-23288039
9.
p53 mediates loss of hematopoietic stem cell function and lymphopenia in Mysm1 deficiency.
Blood
; 125(15): 2344-8, 2015 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-25710881
10.
Nuclear receptor binding protein 1 regulates intestinal progenitor cell homeostasis and tumour formation.
EMBO J
; 31(11): 2486-97, 2012 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-22510880
11.
Liver transplantation for classical maple syrup urine disease: long-term follow-up.
J Pediatr Gastroenterol Nutr
; 59(5): 636-9, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24979318
12.
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Hum Mutat
; 34(2): 355-62, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23086801
13.
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
J Inherit Metab Dis
; 36(3): 535-42, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22976764
14.
New challenges in management of phenylketonuria in pregnancy: a case report.
J Med Case Rep
; 17(1): 465, 2023 Nov 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37941064
15.
Regulators of male and female sexual development are critical for the transmission of a malaria parasite.
Cell Host Microbe
; 31(2): 305-319.e10, 2023 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36634679
16.
Assignment of protein interactions from affinity purification/mass spectrometry data.
J Proteome Res
; 11(3): 1462-74, 2012 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-22283744
17.
Candida albicans Hyphal Extracellular Vesicles Are Different from Yeast Ones, Carrying an Active Proteasome Complex and Showing a Different Role in Host Immune Response.
Microbiol Spectr
; 10(3): e0069822, 2022 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35604172
18.
Aneuploidy tolerance caused by BRG1 loss allows chromosome gains and recovery of fitness.
Nat Commun
; 13(1): 1731, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35365638
19.
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
Antioxidants (Basel)
; 11(8)2022 Aug 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36009307
20.
The ubiquitin-dependent ATPase p97 removes cytotoxic trapped PARP1 from chromatin.
Nat Cell Biol
; 24(1): 62-73, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35013556