scholarly journals A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

1994 ◽  
Vol 39 (3) ◽  
pp. 345-351 ◽  
Author(s):  
Tadashi Matsumoto ◽  
Tatsuro Kondoh ◽  
Hideaki Masuzaki ◽  
Naoki Harada ◽  
Tetsuo Matsusaka ◽  
...  
1996 ◽  
Vol 40 (4) ◽  
pp. 1060-1062 ◽  
Author(s):  
M Stieger ◽  
P Angehrn ◽  
B Wohlgensinger ◽  
H Gmünder

The sequence of the gyrase B subunit gene from Staphylococcus aureus strains resistant to the gyrase B subunit inhibitors cyclothialidine, coumermycin, and novobiocin has been determined. The residues altered in the resistant gyrase B subunits map to the ATP-binding region, suggesting that the drugs inhibit ATP binding and hydrolysis. The pattern of cross-resistances indicates that the detailed binding mode of the compounds differs.


Science ◽  
1988 ◽  
Vol 240 (4860) ◽  
pp. 1776-1780 ◽  
Author(s):  
M Zajac-Kaye ◽  
EP Gelmann ◽  
D Levens

A 20-base pair region in the first intron of the human c-myc gene was identified as the binding site of a nuclear protein. This binding site is mutated in five out of seven Burkitt lymphomas sequenced to date. To investigate the protein-recognition region in greater detail, the abnormal c-myc allele from a Burkitt lymphoma line (PA682) that carries a t(8;22) chromosomal translocation was used. A point mutation in the binding region of the PA682 c-myc DNA abolished binding of this nuclear protein. This protein may be an important factor for control of c-myc expression, and mutations in its recognition sequence may be associated with c-myc activation in many cases of Burkitt lymphoma.


Blood ◽  
2002 ◽  
Vol 99 (9) ◽  
pp. 3472-3475 ◽  
Author(s):  
Susan Branford ◽  
Zbigniew Rudzki ◽  
Sonya Walsh ◽  
Andrew Grigg ◽  
Chris Arthur ◽  
...  

Abstract Point mutations were found in the adenosine triphosphate (ATP) binding region of BCR/ABL in 12 of 18 patients with chronic myeloid leukemia (CML) or Ph-positive acute lymphoblastic leukemia (Ph+ ALL) and imatinib resistance (defined as loss of established hematologic response), but they were found in only 1 of 10 patients with CML with imatinib refractoriness (failure to achieve cytogenetic response). In 10 of 10 patients for whom samples were available, the mutation was not detected before the initiation of imatinib therapy. Three mutations (T315I, Y253H, and F317L present in 3, 1, and 1 patients, respectively) have a predicted role in abrogating imatinib binding to BCR/ABL, whereas 3 other mutations (E255K, G250E, and M351T, present in 4, 2, and 2 patients, respectively) do not. Thus we confirm a high frequency of mutations clustered within the ATP-binding region of BCR/ABL in resistant patients. Screening may allow intervention before relapse by identifying emerging mutations with defined impacts on imatinib binding. Certain mutations may respond to higher doses of imatinib, whereas other mutations may mandate switching to another therapeutic strategy.


2004 ◽  
Vol 232 (2) ◽  
pp. 123-126 ◽  
Author(s):  
Kazuo Taniguchi ◽  
Akio Nakamura ◽  
Kazue Tsurubuchi ◽  
Koji O'Hara ◽  
Tetsuo Sawai

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Bharati Pandey ◽  
Sonam Grover ◽  
Sukriti Goyal ◽  
Anchala Kumari ◽  
Aditi Singh ◽  
...  

2013 ◽  
Vol 32 (3) ◽  
pp. 394-405 ◽  
Author(s):  
Ambuj Kumar ◽  
Vidya Rajendran ◽  
Rao Sethumadhavan ◽  
Rituraj Purohit

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