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Your search keyword '"Proteasome Endopeptidase Complex deficiency"' showing total 2 results
Start Over Descriptor "Proteasome Endopeptidase Complex deficiency" Publisher academic press
2 results on '"Proteasome Endopeptidase Complex deficiency"'

1. Stem cell transplantation as treatment for major histocompatibility class I deficiency.

Author

Tsilifis C, Moreira D, Marques L, Neves E, Slatter MA, and Gennery AR

Subjects
ATP Binding Cassette Transporter, Subfamily B, Member 2 deficiency, ATP Binding Cassette Transporter, Subfamily B, Member 2 genetics, ATP Binding Cassette Transporter, Subfamily B, Member 3 deficiency, ATP Binding Cassette Transporter, Subfamily B, Member 3 genetics, Child, Chromosome Deletion, Fatal Outcome, Female, Follow-Up Studies, Graft vs Host Disease etiology, Humans, Loss of Function Mutation, Pneumonia immunology, Pneumonia therapy, Primary Immunodeficiency Diseases immunology, Proteasome Endopeptidase Complex deficiency, Proteasome Endopeptidase Complex genetics, T-Lymphocytes immunology, Young Adult, Hematopoietic Stem Cell Transplantation adverse effects, Histocompatibility Antigens Class I genetics, Primary Immunodeficiency Diseases genetics, Primary Immunodeficiency Diseases therapy
Abstract

Major histocompatibility class I deficiency, due to genetic lesions in TAP1, TAP2, TAPBP, or B2M, manifests with recurrent sinopulmonary infections and granulomatous skin ulceration, and is predominately treated with antimicrobial prophylaxis and chest physiotherapy. One previous report of hematopoietic stem cell transplantation has been described in the literature, demonstrating cure of the immune defect without significant graft-versus-host disease. In this report, we expand the literature on HSCT in MHC-I deficiency with follow-up of the original patient, demonstrating maintained resolution of normal immune function and regression of the granulomatous rash 15 years post-transplant, and describe a further patient with mycobacterial disease whose transplant course was complicated by severe graft-versus-host disease., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Published
2021
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2. Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence.

Author

Byrne A, McLaren RP, Mason P, Chai L, Dufault MR, Huang Y, Liang B, Gans JD, Zhang M, Carter K, Gladysheva TB, Teicher BA, Biemann HP, Booker M, Goldberg MA, Klinger KW, Lillie J, Madden SL, and Jiang Y

Subjects
CDC2 Protein Kinase genetics, CDC2 Protein Kinase metabolism, Cell Line, Tumor, Cell Proliferation, Cell Survival genetics, Cyclin B1 genetics, Cyclin B1 metabolism, Cyclin D1 genetics, Cyclin D1 metabolism, Cyclin-Dependent Kinase Inhibitor Proteins genetics, Cyclin-Dependent Kinase Inhibitor Proteins metabolism, DNA analysis, Epithelial Cells cytology, Epithelial Cells metabolism, Fibroblasts cytology, Fibroblasts metabolism, G1 Phase genetics, Gene Expression genetics, HeLa Cells, Humans, Phosphorylation genetics, Proteasome Endopeptidase Complex genetics, Proteasome Endopeptidase Complex metabolism, RNA, Small Interfering genetics, Resting Phase, Cell Cycle genetics, Retinoblastoma Protein genetics, Retinoblastoma Protein metabolism, Sulfotransferases metabolism, Trans-Activators genetics, Trans-Activators metabolism, Transfection, Ubiquitinated Proteins metabolism, Up-Regulation genetics, beta-Galactosidase metabolism, cdc25 Phosphatases genetics, cdc25 Phosphatases metabolism, Cell Cycle genetics, Cellular Senescence genetics, Proteasome Endopeptidase Complex deficiency, Trans-Activators deficiency
Abstract

The PSMD14 (POH1, also known as Rpn11/MPR1/S13/CepP1) protein within the 19S complex (19S cap; PA700) is responsible for substrate deubiquitination during proteasomal degradation. The role of PSMD14 in cell proliferation and senescence was explored using siRNA knockdown in carcinoma cell lines. Our results reveal that down-regulation of PSMD14 by siRNA transfection had a considerable impact on cell viability causing cell arrest in the G0-G1 phase, ultimately leading to senescence. The molecular events associated with decreased cell proliferation, cell cycle arrest and senescence include down-regulation of cyclin B1-CDK1-CDC25C, down-regulation of cyclin D1 and up-regulation of p21(/Cip) and p27(/Kip1). Most notably, phosphorylation of the retinoblastoma protein was markedly reduced in PSMD14 knockdown cells. A comparative study with PSMB5, a subunit of the 20S proteasome, revealed that PSMB5 and PSMD14 have different effects on cell cycle, senescence and associated molecular events. These data support the view that the 19S and 20S subunits of the proteasome have distinct biological functions and imply that targeting 19S and 20S would have distinct molecular consequences on tumor cells.

Published
2010
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