Site-directed mutagenesis of the P225, N230 and H272 residues of succinate dehydrogenase subunit B fromBotrytis cinereahighlights different roles in enzyme activity and inhibitor binding

2013 ◽  
Vol 16 (7) ◽  
pp. 2253-2266 ◽  
Author(s):  
Anaïs Lalève ◽  
Stéphanie Gamet ◽  
Anne-Sophie Walker ◽  
Danièle Debieu ◽  
Valérie Toquin ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Succinate Dehydrogenase ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Inhibitor Binding ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

Characterization of inhibitor binding to human kinesin spindle protein by site-directed mutagenesis

2009 ◽  
Vol 484 (1) ◽  
pp. 1-7 ◽  
Author(s):  
C. Gary Marshall ◽  
Maricel Torrent ◽  
Olusegun Williams ◽  
Kelly A. Hamilton ◽  
Carolyn A. Buser
Keyword(s):  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Inhibitor Binding ◽  
Kinesin Spindle Protein

Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma

2006 ◽  
Vol 76 (8) ◽  
pp. 763-764 ◽  
Author(s):  
Mark J. Bolland ◽  
Diana E. Benn ◽  
Michael S. Croxson ◽  
John McCall ◽  
James H. F. Shaw ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gastrointestinal Stromal Tumour ◽  
Stromal Tumour ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals Head and Neck Paraganglioma Atypically Carrying a Succinate Dehydrogenase Subunit B Mutation (L157X)

2020 ◽  
Vol 59 (9) ◽  
pp. 1167-1171
Author(s):  
Ken Takeshima ◽  
Hiroyuki Ariyasu ◽  
Shinsuke Uraki ◽  
Chie Kitahara ◽  
Shuhei Morita ◽  
...  
Keyword(s):  
Head And Neck ◽  
Succinate Dehydrogenase ◽  
Succinate Dehydrogenase Subunit B ◽  
Head And Neck Paraganglioma ◽  
Subunit B

scholarly journals SUCCINATE DEHYDROGENASE SUBUNIT B MUTATION PRESENTING WITH SPERMATIC CORD AND NECK PARAGANGLIOMA

2018 ◽  
Vol 4 (4) ◽  
pp. e324-e328
Author(s):  
Caroline Bachmeier ◽  
Leslie Kuma ◽  
Michael Collins ◽  
Kunwarjit Sangla
Keyword(s):  
Succinate Dehydrogenase ◽  
Spermatic Cord ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals A Novel Succinate Dehydrogenase Subunit B Gene Mutation, H132P, Causes Familial Malignant Sympathetic Extraadrenal Paragangliomas

2004 ◽  
Vol 89 (1) ◽  
pp. 362-367 ◽  
Author(s):  
Margarete Maier-Woelfle ◽  
Michael Brändle ◽  
Paul Komminoth ◽  
Parvin Saremaslani ◽  
Sonja Schmid ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

Probing the inhibitor-binding site of aldose reductase with site-directed mutagenesis

1998 ◽  
Vol 256 (2) ◽  
pp. 310-316 ◽  
Author(s):  
Thomas C. Hohman ◽  
Ossama El-Kabbani ◽  
Michael S. Malamas ◽  
Kehdih Lai ◽  
Tatiana Putilina ◽  
...  
Keyword(s):  
Binding Site ◽  
Aldose Reductase ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Inhibitor Binding

scholarly journals Biochemical Characterization of Laboratory Mutants of Extended-Spectrum β-Lactamase TEM-60

2004 ◽  
Vol 48 (9) ◽  
pp. 3579-3582 ◽  
Author(s):  
Bibiana Caporale ◽  
Nicola Franceschini ◽  
Mariagrazia Perilli ◽  
Bernardetta Segatore ◽  
Gian Maria Rossolini ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Kinetic Parameters ◽  
Biochemical Characterization ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Extended Spectrum

ABSTRACT Three mutants of the extended-spectrum β-lactamase TEM-60, the P51L, K104E, and S164R mutants, were constructed by site-directed mutagenesis. The kinetic parameters of the mutated enzymes and interactions of inhibitors were significantly different from those of TEM-60, revealing that the L51P mutation plays an important role in enzyme activity and stability in the TEM-60 background.

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