| The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein. | The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.
Sharma P, Maklashina E, Cecchini G, Iverson TM., Free PMC Article | 11/21/2020 |
| SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response. | SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.
Zong Y, Li Q, Zhang F, Xian X, Wang S, Xia J, Li J, Tuo Z, Xiao G, Liu L, Li G, Zhang S, Wu G, Liu J., Free PMC Article | 10/24/2020 |
| Loss of SDHAF2 gene is associated with paragangliomas. | Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS, Hensen EF, Jordanova ES, Korpershoek E, van der Horst-Schrivers AN, Cornelisse C, Corssmit EP, Hes FJ, Jansen JC, Kunst HP, Timmers HJ, Bateman A, Eccles D, Bovée JV, Devilee P, Bayley JP., Free PMC Article | 10/14/2017 |
| The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma. | Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH, European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group., Free PMC Article | 09/30/2017 |
| data show that SDHA flavination is independent of SDHAF2 in breast cancer cells, employing an alternative mechanism. | The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.
Bezawork-Geleta A, Dong L, Rohlena J, Neuzil J., Free PMC Article | 05/20/2017 |
| FAD interacts noncovalently with SDHA in the absence of SDH5 | In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.
Zafreen L, Walker-Kopp N, Huang LS, Berry E. | 05/13/2017 |
| Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHAF2 gene cause Paragangliomas only when the mutation is inherited from father. | A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.
Anttila T, Häyry V, Nicoli T, Hagström J, Aittomäki K, Vikatmaa P, Niemelä M, Saarilahti K, Mäkitie A, Bäck LJ. | 01/30/2016 |
| Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role. | Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.
Kugelberg J, Welander J, Schiavi F, Fassina A, Bäckdahl M, Larsson C, Opocher G, Söderkvist P, Dahia PL, Neumann HP, Gimm O. | 10/25/2014 |
| New mutation found in SDHAF2 gene in pheochromocytoma/paraganglioma patients. | Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M. | 10/4/2014 |
| Data indicate that SDH5 is protected from mitochondrial LON (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2). | Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
Bezawork-Geleta A, Saiyed T, Dougan DA, Truscott KN. | 06/7/2014 |
| Data indicate that succinate dehydrogenase 5 (SDH5) functions as a critical protein in regulating epithelial-mesenchymal transition (EMT) by modulating the glycogen synthase kinase (GSK)-3beta-beta-catenin signaling pathway. | Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasis.
Liu J, Gao L, Zhang H, Wang D, Wang M, Zhu J, Pang C, Wang C., Free PMC Article | 12/14/2013 |
| Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families. | Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
Baysal BE. | 07/27/2013 |
| Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade. | The role of complex II in disease.
Hoekstra AS, Bayley JP. | 07/27/2013 |
| Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation. | Emerging concepts in the flavinylation of succinate dehydrogenase.
Kim HJ, Winge DR., Free PMC Article | 07/27/2013 |
| We established the SDHAF2 mutation status of PGL2 family members | SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
Kunst HP, Rutten MH, de Mönnink JP, Hoefsloot LH, Timmers HJ, Marres HA, Jansen JC, Kremer H, Bayley JP, Cremers CW. | 07/2/2011 |
| Somatic mutations of the SDHAF2 tumor suppressor gene are unlikely to frequently contribute to parathyroid tumor development in sporadic primary hyperparathyroidism. | Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism.
Starker LF, Delgado-Verdugo A, Udelsman R, Björklund P, Carling T. | 02/26/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN. | 12/2/2009 |
| germline loss-of-function mutations in the SDH5 gene segregate with disease in a family with hereditary paraganglioma | SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J., Free PMC Article | 01/21/2010 |