Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress.
Cell
; 142(4): 613-24, 2010 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20723761
3.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469793
4.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
5.
Immunoproteasome function maintains oncogenic gene expression in KMT2A-complex driven leukemia.
Mol Cancer
; 22(1): 196, 2023 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049829
6.
Immunoproteasomes are important for proteostasis in immune responses.
Cell
; 152(5): 935-7, 2013 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23452842
7.
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
J Allergy Clin Immunol
; 149(3): 1120-1127.e8, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34416217
8.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet
; 29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129449
9.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
10.
Immunoproteasome impairment via ß5i/LMP7-deletion leads to sustained pancreatic injury from experimental pancreatitis.
J Cell Mol Med
; 25(14): 6786-6799, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132031
11.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043
12.
ER-aminopeptidase 1 determines the processing and presentation of an immunotherapy-relevant melanoma epitope.
Eur J Immunol
; 50(2): 270-283, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729751
13.
Proteasomal adaptations underlying carfilzomib-resistance in human bone marrow plasma cells.
Am J Transplant
; 20(2): 399-410, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595669
14.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
15.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343629
16.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
17.
HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.
Blood
; 138(19): 1896-1901, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019630
18.
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
Br J Dermatol
; 189(1): 131-132, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37144643
19.
Major Histocompatibility Complex (MHC) Class I Processing of the NY-ESO-1 Antigen Is Regulated by Rpn10 and Rpn13 Proteins and Immunoproteasomes following Non-lysine Ubiquitination.
J Biol Chem
; 291(16): 8805-15, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26903513
20.
The proteasome immunosubunits, PA28 and ER-aminopeptidase 1 protect melanoma cells from efficient MART-126-35 -specific T-cell recognition.
Eur J Immunol
; 45(12): 3257-68, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26399368