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Academic Journal

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.

  • Authors : Hijazi L; 1 King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.; Kashgari A

Subjects: Multiple Sulfatase Deficiency Disease/Multiple Sulfatase Deficiency Disease/Multiple Sulfatase Deficiency Disease/*genetics ; Mutation/Mutation/Mutation/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics

  • Source: Journal of child neurology [J Child Neurol] 2018 Nov; Vol. 33 (13), pp. 820-824. Date of Electronic Publication: 2018 Aug 20.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283

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Academic Journal

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

  • Authors : Saha M; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.; Reddy HM

Subjects: Mutation*; Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics

  • Source: Physiological genomics [Physiol Genomics] 2018 Nov 01; Vol. 50 (11), pp. 929-939. Date of Electronic Publication: 2018 Aug 31.Publisher: American Physiological Society Country of Publication: United States NLM ID: 9815683 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Mutational analysis of sulfite reductase hemoprotein reveals the mechanism for coordinated electron and proton transfer.

  • Authors : Smith KW; Department of Biological Science and Institute of Molecular Biophysics, Florida State University, Tallahassee, FL 32306-4380, USA.; Stroupe ME

Subjects: Mutation*; Hemeproteins/Hemeproteins/Hemeproteins/*metabolism ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*metabolism

  • Source: Biochemistry [Biochemistry] 2012 Dec 11; Vol. 51 (49), pp. 9857-68. Date of Electronic Publication: 2012 Nov 29.Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Adenosine 5'-phosphosulfate reductase (APR2) mutation in Arabidopsis implicates glutathione deficiency in selenate toxicity.

  • Authors : Grant K; Biology Department, Coastal Carolina University, Conway, SC 29526, USA.; Carey NM

Subjects: Arabidopsis/Arabidopsis/Arabidopsis/*enzymology ; Arabidopsis/Arabidopsis/Arabidopsis/*genetics ; Arabidopsis Proteins/Arabidopsis Proteins/Arabidopsis Proteins/*genetics

  • Source: The Biochemical journal [Biochem J] 2011 Sep 01; Vol. 438 (2), pp. 325-35.Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited

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Academic Journal

Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

Subjects: Mutation*; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics ; Proteins/Proteins/Proteins/*genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2005 Jul 15; Vol. 136 (2), pp. 205-9.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825

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Academic Journal

Mutations in the FAD binding domain cause stress-induced misoxidation of the endoplasmic reticulum oxidoreductase Ero1beta.

  • Authors : Dias-Gunasekara S; School of Biological and Biomedical Sciences, University of Durham, South Road, Durham DH1 3LE, United Kingdom.; van Lith M

Subjects: Mutation*; Endoplasmic Reticulum/Endoplasmic Reticulum/Endoplasmic Reticulum/*enzymology ; Flavin-Adenine Dinucleotide/Flavin-Adenine Dinucleotide/Flavin-Adenine Dinucleotide/*chemistry

  • Source: The Journal of biological chemistry [J Biol Chem] 2006 Sep 01; Vol. 281 (35), pp. 25018-25. Date of Electronic Publication: 2006 Jul 05.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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Academic Journal

Kinetic results for mutations of conserved residues H304 and R309 of human sulfite oxidase point to mechanistic complexities.

  • Authors : Davis AC; Department of Chemistry and Biochemistry, University of Arizona, Tucson, Arizona 85721-0041, USA.; Johnson-Winters K

Subjects: Arginine/Arginine/Arginine/*genetics ; Histidine/Histidine/Histidine/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Metallomics : integrated biometal science [Metallomics] 2014 Sep; Vol. 6 (9), pp. 1664-70.Publisher: Oxford University Press Country of Publication: England NLM ID: 101478346 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

  • Authors : Holder JL Jr; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston.; Agadi S

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Mutation/Mutation/Mutation/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics Sulfite oxidase deficiency

  • Source: JAMA neurology [JAMA Neurol] 2014 Jun; Vol. 71 (6), pp. 782-4.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Kinetic and thermodynamic effects of mutations of human sulfite oxidase.

  • Authors : Rajapakshe A; Department of Chemistry and Biochemistry, The University of Arizona, 1306 E. University Blvd., Tucson, AZ 85721-0041, USA. ; Tollin G

Subjects: Mutation*; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/Oxidoreductases Acting on Sulfur Group Donors/*metabolism

  • Source: Chemistry & biodiversity [Chem Biodivers] 2012 Sep; Vol. 9 (9), pp. 1621-34.Publisher: Verlag Helvetica Chimica Acta Country of Publication: Switzerland NLM ID: 101197449 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Acidithiobacillus caldus sulfur oxidation model based on transcriptome analysis between the wild type and sulfur oxygenase reductase defective mutant.

  • Authors : Chen L; State Key Lab of Microbial Technology, Shandong University, Jinan, China.; Ren Y

Subjects: Gene Expression Profiling* ; Models, Biological*; Acidithiobacillus/Acidithiobacillus/Acidithiobacillus/*enzymology

  • Source: PloS one [PLoS One] 2012; Vol. 7 (9), pp. e39470. Date of Electronic Publication: 2012 Sep 12.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  41 results for ""Oxidoreductases Acting on Sulfur Group Donors""