{"entity": "researcher", "timestamp": "2026-07-12T09:01:39.280Z", "family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "affiliations": ["Department of Biomedical and Clinical Sciences (BKV), Link\u00f6ping University, 581 83 Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875"}}, "publications": [{"entity": "publication", "iuid": "7113a2d0392946c48648bba31fb03588", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7113a2d0392946c48648bba31fb03588.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7113a2d0392946c48648bba31fb03588"}}, "title": "Integrative Epigenomic and Transcriptomic Profiling Define Malignancy- and Cluster-Specific Signatures in Pheochromocytomas and Paragangliomas", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal-article", "published": "2026-01-20", "journal": {"title": "Cells", "issn": "2073-4409", "volume": "15", "issue": "2", "pages": "198", "issn-l": "2073-4409"}, "abstract": null, "doi": "10.3390/cells15020198", "pmid": null, "labels": {"Clinical Genomics": "Service", "Clinical Genomics Link\u00f6ping": "Collaborative"}, "xrefs": [], "notes": [], "created": "2026-01-26T09:31:12.459Z", "modified": "2026-01-26T09:32:30.489Z"}, {"entity": "publication", "iuid": "cd69deb28cb34a7ba0f06bcbdcde1b23", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cd69deb28cb34a7ba0f06bcbdcde1b23.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cd69deb28cb34a7ba0f06bcbdcde1b23"}}, "title": "Role of GDH and PARP inhibitors as novel treatments for SDHB-deficient PPGLs.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "Abdallah", "given": "Sallam", "initials": "S"}, {"family": "El-Serafi", "given": "Ahmed", "initials": "A"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P", "orcid": "0000-0001-9867-8706", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1fc163b9a08421180f7f235af3897f4.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}], "type": "journal article", "published": "2025-10-01", "journal": {"title": "Endocr. Relat. Cancer", "issn": "1479-6821", "issn-l": "1351-0088", "volume": "32", "issue": "10", "pages": null}, "abstract": "SDHB, one of the four genes encoding the subunits of the Krebs cycle enzyme succinate dehydrogenase (SDH), acts as a tumor suppressor in several human cancers, including pheochromocytomas/paragangliomas. Mutations in SDHB lead to a reduction or complete loss of enzymatic activity, linking SDHB to paraganglioma malignancy. Given the difficulty in curing metastatic paragangliomas and the limited value of surgery, new treatments are needed. Glutamine dehydrogenase 1 (GDH1), a key regulator of glutathione metabolism, and poly (ADP-ribose) polymerase (PARP), essential for repairing single- or double-stranded DNA breaks, are crucial in cancer initiation and progression. We treated the human pheochromocytoma cell line (hPheo1) with knocked-down SDHB using radiation, the GDH inhibitor 'R162', and the PARP inhibitor 'olaparib'. Combining R162 with radiation enhances anticancer effectiveness, reduces cell proliferation, and causes G2/M phase arrest in the wild-type and KD-SDHB hPheo1 cell line. KD-SDHB hPheo1 cells treated with olaparib alone were more resistant than wild-type cells but were more sensitive in combination with radiation, activated repair mechanisms, and halted cell cycle progression at the G2/M phase. These results suggest that enhancing radiation-induced DNA damage could be a potential treatment strategy for metastatic pheochromocytomas/paragangliomas. Inhibiting GDH1 and PARP activities, with radiation, may represent promising strategies for the treatment of SDHB-deficient pheochromocytoma/paraganglioma; however, their effects do not appear to be specific to SDHB-deficient cells and require further validation.", "doi": "10.1530/ERC-25-0173", "pmid": "40990469", "labels": {"Clinical Genomics": "Collaborative", "Clinical Genomics Link\u00f6ping": "Collaborative"}, "xrefs": [{"db": "pii", "key": "ERC-25-0173"}], "notes": [], "created": "2025-10-09T06:57:26.582Z", "modified": "2025-11-04T09:44:51.833Z"}, {"entity": "publication", "iuid": "fdd85dd6bc6544c9abccb2e0a6b9a4fa", "links": {"self": {"href": "https://publications.scilifelab.se/publication/fdd85dd6bc6544c9abccb2e0a6b9a4fa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/fdd85dd6bc6544c9abccb2e0a6b9a4fa"}}, "title": "Modulation of biological activities in adipose derived stem cells by histone deacetylation.", "authors": [{"family": "Abdallah", "given": "Sallam", "initials": "S"}, {"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "Qanadilo", "given": "Sawsan", "initials": "S"}, {"family": "Ali", "given": "Neserin", "initials": "N"}, {"family": "Wang", "given": "Jing", "initials": "J"}, {"family": "D'Arcy", "given": "P\u00e1draig", "initials": "P"}, {"family": "Zhong", "given": "Wen", "initials": "W", "orcid": "0000-0002-7422-6104", "researcher": {"href": "https://publications.scilifelab.se/researcher/a82c3b7da3b8472392d39ca5f6d5bedb.json"}}, {"family": "Sjoberg", "given": "Folke", "initials": "F"}, {"family": "Elmasry", "given": "Moustafa", "initials": "M"}, {"family": "El-Serafi", "given": "Ahmed", "initials": "A"}], "type": "journal article", "published": "2025-01-29", "journal": {"title": "Sci Rep", "issn": "2045-2322", "issn-l": "2045-2322", "volume": "15", "issue": "1", "pages": "3629"}, "abstract": "Difficult-to-heal wounds management accounts for about 4% of healthcare costs, highlighting the need for innovative solutions. Extracellular signals drive cell proliferation during tissue regeneration, while epigenetic mechanisms regulate stem cell homeostasis, differentiation, and skin repair. Exploring epigenetic regulation in adipose-derived stem cells (ADSCs) holds promise for improving skin injury treatments. We investigated the effects of histone deacetylase inhibitor (SAHA) on ADSCs to better understand its cellular and molecular impacts. ADSCs were treated with SAHA for 72 h, showing no change in cell viability at the studied concentrations. However, the expression of histone deacetylase decreased at 1000 nM, while the cell proliferation marker Ki-67 increased after SAHA treatment, as confirmed by immunofluorescence. CCND1 gene expression increased, whereas protein expression of the proliferating cell nuclear antigen (PCNA) decreased. Cell cycle analysis showed an increase in G2 phase in SAHA-treated cells. Microarray analysis revealed 74 upregulated and 40 downregulated differentially expressed genes, including upregulation of P53 targets, CDKN1A and MDM2. Proteomic analysis identified 631 upregulated and 823 downregulated proteins compared to the vehicle. Pathway enrichment analysis showed cell cycle, ATP-dependent chromatin remodeling and DNA processes were among the affected pathways. This study suggests SAHA modulates ADSCs' biological processes, highlighting its potential for skin regeneration.", "doi": "10.1038/s41598-024-84652-1", "pmid": "39880862", "labels": {"Clinical Genomics Link\u00f6ping": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-024-84652-1"}, {"db": "pmc", "key": "PMC11779964"}], "notes": [], "created": "2025-01-31T10:37:54.632Z", "modified": "2025-03-24T08:23:01.425Z"}, {"entity": "publication", "iuid": "8949ae798885446eb4b442de770a73dd", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8949ae798885446eb4b442de770a73dd.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8949ae798885446eb4b442de770a73dd"}}, "title": "Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Gimm", "given": "Oliver", "initials": "O"}], "type": "journal article", "published": "2023-01-01", "journal": {"title": "Endocr. Relat. Cancer", "issn": "1479-6821", "volume": "30", "issue": "1", "issn-l": "1351-0088"}, "abstract": "Mitochondrial DNA (mtDNA) alterations have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis. However, there is little information about its involvement in pheochromocytomas and paragangliomas (PCCs/PGLs) formation. PCCs and PGLs are rare endocrine tumors of the chromaffin cells in the adrenal medulla and extra-adrenal paraganglia that can synthesize and secrete catecholamines. Over the last 3 decades, the genetic background of about 60% of PCCs/PGLs involving nuclear DNA alterations has been determined. Recently, a study showed that mitochondrial alterations can be found in around 17% of the remaining PCCs/PGLs. In this review, we summarize recent knowledge regarding both nuclear and mitochondrial alterations and their involvement in PCCs/PGLs. We also provide brief insights into the genetics and the molecular pathways associated with PCCs/PGLs and potential therapeutical targets.", "doi": "10.1530/ERC-22-0217", "pmid": "36219865", "labels": {"Clinical Genomics Link\u00f6ping": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "ERC-22-0217"}], "notes": [], "created": "2023-12-03T06:08:55.703Z", "modified": "2023-12-03T06:08:55.727Z"}, {"entity": "publication", "iuid": "9591fd31f8354bb68ebb9e31259336ef", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9591fd31f8354bb68ebb9e31259336ef.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9591fd31f8354bb68ebb9e31259336ef"}}, "title": "Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Dutta", "given": "Ravi Kumar", "initials": "RK"}, {"family": "Lomazzi", "given": "Sandra", "initials": "S"}, {"family": "Turkina", "given": "Maria V", "initials": "MV"}, {"family": "Brunaud", "given": "Laurent", "initials": "L", "orcid": "0000-0001-5182-6660", "researcher": {"href": "https://publications.scilifelab.se/researcher/132c416fbbde4a1f90d4a8c0e95f9f1f.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal article", "published": "2022-01-06", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "volume": "14", "issue": "2", "issn-l": "2072-6694"}, "abstract": "Somatic mutations, copy-number variations, and genome instability of mitochondrial DNA (mtDNA) have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis. However, there is scarce information about pheochromocytomas and paragangliomas (PCCs/PGLs) formation.\n\nTo determine the potential roles of mtDNA alterations in sporadic PCCs/PGLs, we analyzed a panel of 26 nuclear susceptibility genes and the entire mtDNA sequence of seventy-seven human tumors, using next-generation sequencing, and compared the results with normal adrenal medulla tissues. We also performed an analysis of copy-number alterations, large mtDNA deletion, and gene and protein expression.\n\nOur results revealed that 53.2% of the tumors harbor a mutation in at least one of the targeted susceptibility genes, and 16.9% harbor complementary mitochondrial mutations. More than 50% of the mitochondrial mutations were novel and predicted pathogenic, affecting mitochondrial oxidative phosphorylation. Large deletions were found in 26% of tumors, and depletion of mtDNA occurred in more than 87% of PCCs/PGLs. The reduction of the mitochondrial number was accompanied by a reduced expression of the regulators that promote mitochondrial biogenesis (PCG1\u03b1, NRF1, and TFAM). Further, P62 and LC3a gene expression suggested increased mitophagy, which is linked to mitochondrial dysfunction.\n\nThe pathogenic role of these finding remains to be shown, but we suggest a complementarity and a potential contributing role in PCCs/PGLs tumorigenesis.", "doi": "10.3390/cancers14020269", "pmid": "35053433", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC8773562"}, {"db": "pii", "key": "cancers14020269"}], "notes": [], "created": "2022-12-01T14:13:42.523Z", "modified": "2022-12-01T14:13:42.606Z"}, {"entity": "publication", "iuid": "9e917fc376384f4b84269a6daf842b63", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9e917fc376384f4b84269a6daf842b63.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9e917fc376384f4b84269a6daf842b63"}}, "title": "Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "Kumar Dutta", "given": "Ravi", "initials": "R"}, {"family": "Skoglund", "given": "Camilla", "initials": "C"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}], "type": "journal article", "published": "2022-01-05", "journal": {"title": "Int J Mol Sci", "issn": "1422-0067", "volume": "23", "issue": "1", "issn-l": null}, "abstract": "Enzymes of tricarboxylic acid (TCA) have recently been recognized as tumor suppressors. Mutations in the SDHB subunit of succinate dehydrogenase (SDH) cause pheochromocytomas and paragangliomas (PCCs/PGLs) and predispose patients to malignant disease with poor prognosis.\n\nUsing the human pheochromocytoma cell line (hPheo1), we knocked down SDHB gene expression using CRISPR-cas9 technology.\n\nMicroarray gene expression analysis showed that >500 differentially expressed gene targets, about 54%, were upregulated in response to SDHB knock down. Notably, genes involved in glycolysis, hypoxia, cell proliferation, and cell differentiation were up regulated, whereas genes involved in oxidative phosphorylation (OXPHOS) were downregulated. In vitro studies show that hPheo1 proliferation is not affected negatively and the cells that survive by shifting their metabolism to the use of glutamine as an alternative energy source and promote OXPHOS activity. Knock down of SDHB expression results in a significant increase in GLUD1 expression in hPheo1 cells cultured as monolayer or as 3D culture. Analysis of TCGA data confirms the enhancement of GLUD1 in SDHB mutated/low expressed PCCs/PGLs.\n\nOur data suggest that the downregulation of SDHB in PCCs/PGLs results in increased GLUD1 expression and may represent a potential biomarker and therapeutic target in SDHB mutated tumors and SDHB loss of activity-dependent diseases.", "doi": "10.3390/ijms23010560", "pmid": "35008989", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC8745660"}, {"db": "pii", "key": "ijms23010560"}], "notes": [], "created": "2022-12-01T14:12:53.382Z", "modified": "2022-12-01T14:12:53.457Z"}]}