Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.77.2.489 ◽

1993 ◽

Vol 77 (2) ◽

pp. 489-493 ◽

Author(s):

C. E. Fardella

Keyword(s):

Amino Acids ◽

Hydroxylase Deficiency ◽

Human Cytochrome ◽

Cytochrome P450c17

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Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.77.2.8345056 ◽

1993 ◽

Vol 77 (2) ◽

pp. 489-493

Author(s):

C E Fardella ◽

L H Zhang ◽

P Mahachoklertwattana ◽

D Lin ◽

W L Miller

Keyword(s):

Amino Acids ◽

Hydroxylase Deficiency ◽

Human Cytochrome ◽

Cytochrome P450c17

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Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.80.8.2526 ◽

1995 ◽

Vol 80 (8) ◽

pp. 2526-2529 ◽

Author(s):

C. Oshiro

Keyword(s):

Base Pair ◽

Hydroxylase Deficiency ◽

Base Pair Deletion ◽

Cytochrome P450c17

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Phosphorylation of Human Cytochrome P450c17 by p38α Selectively Increases 17,20 Lyase Activity and Androgen Biosynthesis

Journal of Biological Chemistry ◽

10.1074/jbc.m113.460048 ◽

2013 ◽

Vol 288 (33) ◽

pp. 23903-23913 ◽

Author(s):

Meng Kian Tee ◽

Walter L. Miller

Keyword(s):

Human Cytochrome ◽

Lyase Activity ◽

Cytochrome P450c17

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Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.79.1.8027220 ◽

1994 ◽

Vol 79 (1) ◽

pp. 160-164

Author(s):

C E Fardella ◽

D W Hum ◽

J Homoki ◽

W L Miller

Keyword(s):

Point Mutation ◽

Hydroxylase Deficiency ◽

Cytochrome P450c17

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A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency

Molecular and Cellular Endocrinology ◽

10.1016/j.mce.2006.01.003 ◽

2006 ◽

Vol 249 (1-2) ◽

pp. 16-20 ◽

Author(s):

Long-Shyong Lee ◽

Wei-Jane Shu ◽

Chen-Ming Wu ◽

Chia-Hsing Hsieh ◽

Su-Mei Chen ◽

...

Keyword(s):

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Hydroxylase Deficiency ◽

Cytochrome P450c17

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5α-reduced C21 steroids are substrates for human cytochrome P450c17

Archives of Biochemistry and Biophysics ◽

10.1016/j.abb.2003.07.003 ◽

2003 ◽

Vol 418 (2) ◽

pp. 151-160 ◽

Author(s):

Manisha K. Gupta ◽

Oleg L. Guryev ◽

Richard J. Auchus

Keyword(s):

Human Cytochrome ◽

Cytochrome P450c17

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Human Cytochrome P450c17: Single Step Purification and Phosphorylation of Serine 258 by Protein Kinase A

Endocrinology ◽

10.1210/en.2009-1247 ◽

2010 ◽

Vol 151 (4) ◽

pp. 1677-1684 ◽

Author(s):

Yue-Hao Wang ◽

Meng Kian Tee ◽

Walter L. Miller

Keyword(s):

Protein Kinase ◽

Protein Kinase A ◽

Single Step ◽

Human Cytochrome ◽

Single Step Purification ◽

Kinase A ◽

Cytochrome P450c17

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Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

Molecular Genetics and Metabolism ◽

10.1006/mgme.2000.3134 ◽

2001 ◽

Vol 72 (3) ◽

pp. 254-259 ◽

Author(s):

Ching-Wan Lam ◽

Wiebke Arlt ◽

Chi-Kwok Chan ◽

John W. Honour ◽

Chin Jia Lin ◽

...

Keyword(s):

Hydroxylase Deficiency ◽

Cytochrome P450c17

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A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters

Molecular and Cellular Endocrinology ◽

10.1016/s0303-7207(02)00156-9 ◽

2003 ◽

Vol 201 (1-2) ◽

pp. 189-195 ◽

Author(s):

J Qiao

Keyword(s):

Heterozygous Mutation ◽

Lyase Deficiency ◽

Human Cytochrome ◽

Cytochrome P450c17

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Mechanistic Scrutiny Identifies a Kinetic Role for Cytochrome b5 Regulation of Human Cytochrome P450c17 (CYP17A1, P450 17A1)

PLoS ONE ◽

10.1371/journal.pone.0141252 ◽

2015 ◽

Vol 10 (11) ◽

pp. e0141252 ◽

Author(s):

Alexandr N. Simonov ◽

Jessica K. Holien ◽

Joyee Chun In Yeung ◽

Ann D. Nguyen ◽

C. Jo Corbin ◽

...

Keyword(s):

Cytochrome B5 ◽

Human Cytochrome ◽

Cytochrome P450c17

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