Search Results - "Boriack, Richard L."

Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors by Rakheja, Dinesh, Mitui, Midori, Boriack, Richard L., DeBerardinis, Ralph J.

“…Background L‐2‐Hydroxyglutaric aciduria (L‐2‐HGA) is an uncommon inborn error of metabolism, in which the patients are predisposed to develop brain tumors…”
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Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate by Rakheja, Dinesh, Boriack, Richard L., Mitui, Midori, Khokhar, Shama, Holt, Shelby A., Kapur, Payal

“…Elevated levels of d -2-hydroxyglutarate ( d -2-HG) occur in gliomas and myeloid leukemias associated with mutations of IDH1 and IDH2 . l -2-Hydroxyglutaric…”
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Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata by Rakheja, Dinesh, Boriack, Richard L.

“…Systemic fetal dysmorphogenesis in disorders of postsqualene cholesterol biosynthesis is thought to be caused by disruption of Hedgehog signaling. Because…”
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Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria by Rogers, Robert E., DeBerardinis, Ralph J., Klesse, Laura J., Boriack, Richard L., Margraf, Linda R., Rakheja, DINESH

“…We report a male infant with L-2-hydroxyglutaric aciduria and Wilms tumor. L-2-hydroxyglutaric aciduria is a rare, autosomal-recessive, inborn error of…”
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Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase by Bennett, Michael J., Russell, Laurie K., Tokunaga, Chonan, Narayan, Srinivas B., Tan, Lu, Seegmiller, Adam, Boriack, Richard L., Strauss, Arnold W.

“…Medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase (M/SCHAD) deficiency is a recessively inherited disorder of fatty acid oxidation. Currently, only…”
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Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency by Bennett, Michael J, Boriack, Richard L, Narayan, Srinivas, Rutledge, S.Lane, Raff, Michael L

“…Liver carnitine palmitoyltransferase I (CPT I) deficiency is a rare disorder of hepatic mitochondrial long-chain fatty acid oxidation. It characteristically…”
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A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature by Rakheja, Dinesh, Read, Charles P., Hull, David, Boriack, Richard L., Timmons, Charles F.

“…We recently performed an autopsy on a premature female newborn with rhizomesoacromelic limb shortening of the upper and lower extremities, craniofacial…”
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Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts by NARAYAN, Srinivas B, BORIACK, Richard L, MESSMER, Bette, BENNETT, Michael J

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Effect of L-carnitine supplementation on cardiac carnitine palmitoyltransferase activities and plasma carnitine concentrations in adriamycin-treated rats by YOON, Hye-Ran, YOUNG MI HONG, BORIACK, Richard L, BENNETT, Michael J

“…Adriamycin (ADR) inhibits the carnitine palmitoyl transferase (CPT) system and consequently the transport of long-chain fatty acids across mitochondrial…”
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Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid β-oxidation by JONES, P. M, QUINN, R, FENNESSEY, P. V, TJOA, S, GOODMAN, S. I, FIORE, S, BURLINA, A. B, RINALDO, P, BORIACK, R. L, BENNETT, M. J

“…Disorders of fatty acid oxidation (FAO) are difficult to diagnose, primarily because in many of the FAO disorders measurable biochemical intermediates…”
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Abstract B39: NQO1 as a therapeutic target for atypical teratoid/ rhabdoid tumor by Meade, Julia C., Moore, Zachary R., Stuart, Sarai H., Cholka, Agnieszka, Boriack, Richard L., Xu, Jingying, Erdreich-Epstein, Anat, Rakheja, Dinesh, Boothman, David A., Amatruda, James F., Laetsch, Theodore W.

“…Abstract Atypical Teratoid/ Rhabdoid Tumor (ATRT) is an aggressive cancer that accounts for up to 20% of infant brain tumors. Even with intense chemotherapy…”
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CLN-3 Protein is expressed in the pancreatic somatostatin-secreting delta cells 1 by Boriack, Richard L., Bennett, Michael J.

“…Juvenile neuronal ceroid lipofuscinosis QNCL) is a severe autosomal recessive neurodegenerative disorder resulting from mutations in the CLN3 gene. The gene…”
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Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities by Bennett, M J, Boriack, R L

“…In order to study the biochemical mechanisms responsible for the membrane fatty acid deficiency in juvenile neuronal ceroid-lipofuscinosis, we have analyzed…”
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Tissue Expression and Subcellular Localization of CLN3, the Batten Disease Protein by Margraf, Linda R., Boriack, Richard L., Routheut, Audrey A.J., Cuppen, Inge, Alhilali, Lea, Bennett, Catherine J., Bennett, Michael J.

“…Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally…”
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Impaired Mitochondrial Fatty Acid Oxidative Flux in Fibroblasts from a Patient with Malonyl-CoA Decarboxylase Deficiency by Bennett, Michael J., Harthcock, Pamela A., Boriack, Richard L., Cohen, Jonathan C.

“…Malonyl-CoA decarboxylase deficiency is a rare inborn error of metabolism. It has been suggested but never demonstrated that many of the clinical features…”
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Accumulation of Free 3-Hydroxy Fatty Acids in the Culture Media of Fibroblasts from Patients Deficient in Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: A Useful Diagnostic Aid by Jones, Patricia M, Moffitt, Monica, Joseph, Delanie, Harthcock, Pamela A, Boriack, Richard L, Ibdah, Jamal A, Strauss, Arnold W, Bennett, Michael J

“…The diagnosis of long-chain L-3-hydroxy-acyl-coenzyme A dehydrogenase (LCHAD) deficiency frequently requires the study of cultured fibroblasts. We developed…”
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Short-chain hydroxyacyl–coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study by Treacy, Eileen P., Lambert, Deborah M., Barnes, Robert, Boriack, Richard L., Vockley, Jerry, O'Brien, Laurie K., Jones, Patricia M., Bennett, Michael J.

“…We describe a case of liver-specific short-chain hydroxyacyl–coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family…”
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Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation by Bennett, M J, Spotswood, S D, Ross, K F, Comfort, S, Koonce, R, Boriack, R L, IJlst, L, Wanders, R J

“…This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase…”
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Improved Stable Isotope Dilution-Gas Chromatography-Mass Spectrometry Method for Serum or Plasma Free 3-Hydroxy-Fatty Acids and Its Utility for the Study of Disorders of Mitochondrial Fatty Acid {beta}-Oxidation by Jones, Patricia M, Quinn, Rebecca, Fennessey, Paul V, Tjoa, Susan, Goodman, Stephen I, Fiore, Stephany, Burlina, Alberto B, Rinaldo, Piero, Boriack, Richard L, Bennett, Michael J

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Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS) by Otto, Lisa R., Boriack, Richard L., Marsh, Debbie J., Kum, Jennifer B., Eng, Charis, Burlina, Alberto B., Bennett, Michael J.

“…In order to test the hypothesis that long‐chain L 3‐hydroxyacyl‐coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle…”
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