Search Results - "Tolun, Adviye A."

Regulation of mitochondrial metabolism in murine skeletal muscle by the medium‐chain fatty acid receptor Gpr84 by Montgomery, Magdalene K., Osborne, Brenna, Brandon, Amanda E., O'Reilly, Liam, Fiveash, Corrine E., Brown, Simon H. J., Wilkins, Brendan P., Samsudeen, Azrah, Yu, Josephine, Devanapalli, Beena, Hertzog, Ashley, Tolun, Adviye A., Kavanagh, Tomas, Cooper, Antony A., Mitchell, Todd W., Biden, Trevor J., Smith, Nicola J., Cooney, Gregory J., Turner, Nigel

“…Fatty acid receptors have been recognized as important players in glycaemic control. This study is the first to describe a role for the medium‐chain fatty acid…”
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Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) by Sharer, J. Daniel, De Biase, Irene, Matern, Dietrich, Young, Sarah, Bennett, Michael J., Tolun, Adviye A.

“…Amino acid abnormalities are observed in a broad spectrum of inheritedmetabolic diseases, such as disorders of amino acid metabolism and transport,organic…”
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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases? by El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.

“…Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease…”
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Urinary Biomarkers of Oxidative Status in a Clinical Model of Oxidative Assault by LL'YASOVA, Dora, SPASOJEVIC, Ivan, MILLINGTON, David S, WANG, Frances, TOLUN, Adviye A, BASE, Karel, YOUNG, Sarah P, KELLY MARCOM, P, MARKS, Jeffrey, MIXON, Gabriel, DIGIULIO, Richard

“…We used doxorubicin-based chemotherapy as a clinical model of oxidative assault in humans. The study recruited newly diagnosed breast cancer patients (n = 23)…”
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Inborn errors of metabolism refuse to stay‐at‐home: Experiences of a state‐wide biochemical genetics service during the COVID‐19 pandemic by Gutierrez, Bea, Hertzog, Ashley, Badman, Susan, Tolun, Adviye A

“…Aim The New South Wales (NSW) biochemical genetics (BG) service in Australia developed business continuity plans (BCPs) in response to the COVID‐19 pandemic to…”
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Effects of Specific Zidovudine Resistance Mutations and Substrate Structure on Nucleotide-Dependent Primer Unblocking by Human Immunodeficiency Virus Type 1 Reverse Transcriptase by MEYER, Peter R, MATSUURA, Suzanne E, TOLUN, Adviye A, PFEIFER, Ingrid, SO, Antero G, MELLORS, John W, SCOTT, Walter A

“…Classifications Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism by Hertzog, Ashley, Selvanathan, Arthavan, Tolun, Adviye A, Parayil Sankaran, Bindu, Bhattacharya, Kaustuv

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Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns by SISTA, Ramakrishna S, ECKHARDT, Allen E, MILLINGTON, David S, PAMULA, Vamsee K, TONG WANG, GRAHAM, Carrie, ROUSE, Jeremy L, NORTON, Scott M, SRINIVASAN, Vijay, POLLACK, Michael G, TOLUN, Adviye A, BALI, Deeksha

“…Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We…”
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Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner by Clark, Paul J., Thompson, Alexander J., Vock, David M., Kratz, Lisa E., Tolun, Adviye A., Muir, Andrew J., McHutchison, John G., Subramanian, Mani, Millington, David M., Kelley, Richard I., Patel, Keyur

“…Hepatitis C virus (HCV) subverts host cholesterol metabolism for key processes in its lifecycle. How this interference results in the frequently observed,…”
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Involvement of calcitonin gene-related peptide and receptor component protein in experimental autoimmune encephalomyelitis by Sardi, Claudia, Zambusi, Laura, Finardi, Annamaria, Ruffini, Francesca, Tolun, Adviye A, Dickerson, Ian M, Righi, Marco, Zacchetti, Daniele, Grohovaz, Fabio, Provini, Luciano, Furlan, Roberto, Morara, Stefano

“…Abstract Calcitonin Gene-Related Peptide (CGRP) inhibits microglia inflammatory activation in vitro. We here analyzed the involvement of CGRP and Receptor…”
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Allantoin in human urine quantified by ultra-performance liquid chromatography–tandem mass spectrometry by Tolun, Adviye A., Zhang, Haoyue, Il’yasova, Dora, Sztáray, Judit, Young, Sarah P., Millington, David S.

“…Uric acid is a potent antioxidant and scavenger of singlet oxygen and other radicals in humans. Allantoin, the predominant product of free radical-induced…”
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Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity by Bali, Deeksha S., Tolun, Adviye A., Goldstein, Jennifer L., Dai, Jian, Kishnani, Priya S.

“…Introduction: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α‐glucosidase (GAA). A few…”
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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III by Sun, Baodong, Fredrickson, Keri, Austin, Stephanie, Tolun, Adviye A., Thurberg, Beth L., Kraus, William E., Bali, Deeksha, Chen, Yuan-Tsong, Kishnani, Priya S.

“…We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a…”
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A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots by Tolun, Adviye A., Graham, Carrie, Shi, Qun, Sista, Ramakrishna S., Wang, Tong, Eckhardt, Allen E., Pamula, Vamsee K., Millington, David S., Bali, Deeksha S.

“…Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient…”
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Individual responses to chemotherapy-induced oxidative stress by Il'yasova, Dora, Kennedy, Kelly, Spasojevic, Ivan, Wang, Frances, Tolun, Adviye A, Base, Karel, Young, Sarah P, Kelly Marcom, P, Marks, Jeffrey, Millington, David S, Dewhirst, Mark W

“…Differences in redox homeostatic control between cancer patients may underlie predisposition to drug resistance and toxicities. To evaluate interindividual…”
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Systemic oxidative stress, as measured by urinary allantoin and F2 -isoprostanes, is not increased in Down syndrome by Tolun, Adviye A., MS, PhD, Scarbrough, Peter M., PhD, Zhang, Haoyue, PhD, McKillop, Jane-Ann, MS, Wang, Frances, MS, Kishnani, Priya S., MD, Millington, David S., PhD, Young, Sarah P., PhD, Il’yasova, Dora, PhD

“…Abstract Purpose Oxidative stress has been implicated in Down syndrome (DS) pathology. This study compares DS individuals and controls on their urinary levels…”
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Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening by Chien, Yin-Hsiu, Goldstein, Jennifer L., Hwu, Wuh-Liang, Smith, P. Brian, Lee, Ni-Chung, Chiang, Shu-Chuan, Tolun, Adviye A., Zhang, Haoyue, Vaisnins, Amie E., Millington, David S., Kishnani, Priya S., Young, Sarah P.

“…Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in…”
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Overexpression and purification of human calcitonin gene-related peptide–receptor component protein in Escherichia coli by Tolun, Adviye A., Dickerson, Ian M., Malhotra, Arun

“…Calcitonin gene-related peptide (CGRP) is a neuropeptide secreted by the central and peripheral nervous system nerves that has important physiological…”
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Diagnostic value of a microfluidic based fluorometric enzyme assay platform using dried blood spots for a lysosomal disorder, Fabry disease by Tolun, Adviye A., Sista, Ramakrishna S., Eisenberg, Marcia, Eckhardt, Allen E., Pamula, Vamsee K., McDowell, Geraldine A.

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Allantoin in Human Urine Quantified by UPLC-MS/MS by Tolun, Adviye A., Zhang, Haoyue, Ii'yasova, Dora, Sztáray, Judit, Young, Sarah P., Millington, David S.

“…Uric acid is a potent antioxidant and scavenger of singlet oxygen and other radicals in humans. Allantoin, the predominant product of free radical-induced…”
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