Johnson JL - Search Results

1

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Johnson JL, et al. Hum Mutat. 2002 Jul;20(1):74. doi: 10.1002/humu.9038. Hum Mutat. 2002. PMID: 12112661

2

An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency.

Johnson JL, Rajagopalan KV. Johnson JL, et al. J Inherit Metab Dis. 1995;18(1):40-7. doi: 10.1007/BF00711371. J Inherit Metab Dis. 1995. PMID: 7623441

3

Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.

Garrett RM, Johnson JL, Graf TN, Feigenbaum A, Rajagopalan KV. Garrett RM, et al. Among authors: johnson jl. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6394-8. doi: 10.1073/pnas.95.11.6394. Proc Natl Acad Sci U S A. 1998. PMID: 9600976 Free PMC article.

4

Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.

Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J, Boneh A. Johnson JL, et al. Am J Med Genet. 2001 Nov 22;104(2):169-73. doi: 10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8. Am J Med Genet. 2001. PMID: 11746050

5

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.

Johnson JL, Rajagopalan KV, Renier WO, Van der Burgt I, Ruitenbeek W. Johnson JL, et al. Prenat Diagn. 2002 May;22(5):433-6. doi: 10.1002/pd.335. Prenat Diagn. 2002. PMID: 12001203

6

Pulsed EPR studies of nonexchangeable protons near the Mo(V) center of sulfite oxidase: direct detection of the alpha-proton of the coordinated cysteinyl residue and structural implications for the active site.

Astashkin AV, Raitsimring AM, Feng C, Johnson JL, Rajagopalan KV, Enemark JH. Astashkin AV, et al. Among authors: johnson jl. J Am Chem Soc. 2002 May 29;124(21):6109-18. doi: 10.1021/ja0115417. J Am Chem Soc. 2002. PMID: 12022845

7

The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain.

Rudolph MJ, Johnson JL, Rajagopalan KV, Kisker C. Rudolph MJ, et al. Among authors: johnson jl. Acta Crystallogr D Biol Crystallogr. 2003 Jul;59(Pt 7):1183-91. doi: 10.1107/s0907444903009934. Epub 2003 Jun 27. Acta Crystallogr D Biol Crystallogr. 2003. PMID: 12832761

8

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples.

Johnson JL, Rajagopalan KV, Lanman JT, Schutgens RB, van Gennip AH, Sorensen P, Applegarth DA. Johnson JL, et al. J Inherit Metab Dis. 1991;14(6):932-7. doi: 10.1007/BF01800477. J Inherit Metab Dis. 1991. PMID: 1779653

9

Molybdopterin guanine dinucleotide: a modified form of molybdopterin identified in the molybdenum cofactor of dimethyl sulfoxide reductase from Rhodobacter sphaeroides forma specialis denitrificans.

Johnson JL, Bastian NR, Rajagopalan KV. Johnson JL, et al. Proc Natl Acad Sci U S A. 1990 Apr;87(8):3190-4. doi: 10.1073/pnas.87.8.3190. Proc Natl Acad Sci U S A. 1990. PMID: 2326278 Free PMC article.

10

The structure of the molybdenum cofactor. Characterization of di-(carboxamidomethyl)molybdopterin from sulfite oxidase and xanthine oxidase.

Kramer SP, Johnson JL, Ribeiro AA, Millington DS, Rajagopalan KV. Kramer SP, et al. Among authors: johnson jl. J Biol Chem. 1987 Dec 5;262(34):16357-63. J Biol Chem. 1987. PMID: 3680253 Free article.

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