| SDHA-related phaeochromocytoma and paraganglioma: review and clinical management. | SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Kaplan AI, Dwight T, Luxford C, Benn DE, Clifton-Bligh RJ., Free PMC Article | 09/30/2024 |
| Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma. | Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma.
Liu J, Wang Y, Wang X, Li Y, Jiang Y, Li Y, Zhang W, Yu W. | 09/25/2024 |
| SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update. | SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A, Nannini M, Astolfi A, Pantaleo MA., Free PMC Article | 03/30/2023 |
| PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis. | PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis.
Sun M, Yan Q, Qiao Y, Zhao H, Wang Y, Shan C, Zhang S., Free PMC Article | 10/22/2022 |
| Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/beta-catenin pathway. | Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/β-catenin pathway.
Xu X, Zhang N, Gao R, Wang J, Dai Z, Bi J. | 06/11/2022 |
| Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia. | Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
Song X, Wu X, Zhang Z, Cui Z, Zheng Y, Sun J., Free PMC Article | 04/30/2022 |
| Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2. | Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P, NIHR BioResource, Maher ER., Free PMC Article | 03/12/2022 |
| A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment. | A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, Spiegel R. | 11/13/2021 |
| Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma. | Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
Seo SH, Kim JH, Kim MJ, Cho SI, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW., Free PMC Article | 09/18/2021 |
| Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma. | Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T, Higashi S, Murakami S, Arai K, Namatame T, Kijima T, Abe H, Jamiyan T, Ishida K, Shirataki H, Yoshida KI., Free PMC Article | 08/21/2021 |
| The genetic basis of isolated mitochondrial complex II deficiency. | The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M, McFarland R, Taylor RW, Alston CL., Free PMC Article | 07/3/2021 |
| Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. | Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Snezhkina AV, Kalinin DV, Pavlov VS, Lukyanova EN, Golovyuk AL, Fedorova MS, Pudova EA, Savvateeva MV, Stepanov OA, Poloznikov AA, Demidova TB, Melnikova NV, Dmitriev AA, Krasnov GS, Kudryavtseva AV., Free PMC Article | 02/27/2021 |
| 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 |
| Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases. | Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases.
Huang YC, Chang HH, Chen MH, Huang KH, Li AF, Lin CH, Shyr YM, Fang WL., Free PMC Article | 10/24/2020 |
| Clinical significance of the molecular heterogeneity of gastrointestinal stromal tumors and related research: A systematic review. | Clinical significance of the molecular heterogeneity of gastrointestinal stromal tumors and related research: A systematic review.
Ding H, Yu X, Yu Y, Lao X, Hang C, Gao K, Jia Y, Yan Z. | 09/26/2020 |
| SDHA desuccinylation is associated with clear cell renal cell carcinoma tumorigenesis. | SIRT5-mediated SDHA desuccinylation promotes clear cell renal cell carcinoma tumorigenesis.
Ma Y, Qi Y, Wang L, Zheng Z, Zhang Y, Zheng J. | 04/25/2020 |
| All tested genes may be recommended as universal reference genes for data normalization in gene expression studies under different treatment regimens both in primary glioblastomas and astrocytomas of different grades (World Health Organization grades II-IV), respectively. In summary, ACTB and SDHA exhibited the best stability values and showed the lowest intergroup expression variability. | ACTB and SDHA Are Suitable Endogenous Reference Genes for Gene Expression Studies in Human Astrocytomas Using Quantitative RT-PCR.
Röhn G, Koch A, Krischek B, Stavrinou P, Goldbrunner R, Timmer M., Free PMC Article | 01/19/2019 |
| The six index cases described here presented with a variety of clinical manifestations extending the known phenotypic spectrum in SDHA disease. | SDHA mutated paragangliomas may be at high risk of metastasis.
Tufton N, Ghelani R, Srirangalingam U, Kumar AV, Drake WM, Iacovazzo D, Skordilis K, Berney D, Al-Mrayat M, Khoo B, Akker SA. | 10/20/2018 |
| Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family. | Barth syndrome associated with triple mutation.
Tsujii N, Hayashi T, Hayashi T, Kimura A, Nishikubo T. | 09/15/2018 |
| We used a yeast model to characterize 22 SDHA VUS. These data revealed 16 (73%) of SDHA VUS as loss of function (and therefore pathogenic), highlighting the importance of understanding such variants to provide better clinical recommendations for genetic counselors concerning family screening and early detection protocols. | Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.
Bannon AE, Kent J, Forquer I, Town A, Klug LR, McCann K, Beadling C, Harismendy O, Sicklick JK, Corless C, Shinde U, Heinrich MC., Free PMC Article | 07/28/2018 |
| Germline SDHA mutations are relatively common (7.6%) in patients with genetically unexplained paraganglioma (PGL). Most index patients presented with apparently sporadic PGL. In this SDHA series, the largest assembled so far, we found the lowest penetrance of all major PGL predisposition genes. | Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
van der Tuin K, Mensenkamp AR, Tops CMJ, Corssmit EPM, Dinjens WN, van de Horst-Schrivers ANA, Jansen JC, de Jong MM, Kunst HPM, Kusters B, Leter EM, Morreau H, van Nesselrooij BMP, Oldenburg RA, Spruijt L, Hes FJ, Timmers HJLM. | 06/9/2018 |
| We found that microRNA 31 (miR-31) suppressed succinate dehydrogenase complex subunit A (SDHA) expression, vital for mitochondrial electron transport chain (ETC) complex II | MiR-31/SDHA Axis Regulates Reprogramming Efficiency through Mitochondrial Metabolism.
Lee MR, Mantel C, Lee SA, Moon SH, Broxmeyer HE., Free PMC Article | 12/2/2017 |
| This is only the second report supporting the dominant nature of the SDHA c.1351C>T (p.Arg451Cys) mutation being causative for an autosomal dominantly inherited mitochondrial metabolic disorder expanding the phenotypic presentation to an earlier onset of disease with additional cardiac involvement. | SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Courage C, Jackson CB, Hahn D, Euro L, Nuoffer JM, Gallati S, Schaller A. | 10/21/2017 |
| 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 |
| SDH-deficient gastrointestinal stromal tumors (GISTs) account for approximately 8% of gastric GISTs and are associated with a high rate of distant metastasis, regardless of conventional risk category. | Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases.
Mason EF, Hornick JL. | 07/22/2017 |