Search Results - "Reuber, Bernadette E."

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders by Reuber, Bernadette E, Germain-Lee, Emily, Collins, Cynthia S, Morrell, James C, Ameritunga, Rohan, Moser, Hugo W, Valle, David, Gould, Stephen J

“…The peroxisome biogenesis disorders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxisomal matrix protein import, with the…”
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Disruption of a PEX1-PEX6 Interaction is the Most Common Cause of the Neurologic Disorders Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease by Geisbrecht, Brian V., Collins, Cynthia S., Reuber, Bernadette E., Gould, Stephen J.

“…Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of…”
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L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases by Dodt, G, Kim, D G, Reimann, S A, Reuber, B E, McCabe, K, Gould, S J, Mihalik, S J

“…L-Pipecolic acid oxidase activity is deficient in patients with peroxisome biogenesis disorders (PBDs). Because its role, if any, in these disorders is…”
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Cloning and Functional Expression of a Mammalian Gene for a Peroxisomal Sarcosine Oxidase by Reuber, Bernadette E., Karl, Christian, Reimann, Sylvia A., Mihalik, Stephanie J., Dodt, Gabriele

“…Sarcosine oxidation in mammals occurs via a mitochondrial dehydrogenase closely linked to the electron transport chain. An additional H2O2-producing sarcosine…”
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Genotyping of human platelet antigen‐1 by gene amplification and labelling in one system and automated fluorescence correlation spectroscopy by Weber, Stephanie, Hummel, Stefan A., Weber, Artur‐Aron, Zirwes, Rudolf F., Weiner, Olaf H., Reuber, Bernadette E.

“…Genotyping of human platelet antigen‐1 (HPA‐1) is required for the diagnosis and appropriate therapy of alloimmunization. Recently, the HPA‐1 polymorphism has…”
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Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli by Schrader, Michael, Reuber, Bernadette E., Morrell, James C., Jimenez-Sanchez, Gerardo, Obie, Cassandra, Stroh, Tina A., Valle, David, Schroer, Trina A., Gould, Stephen J.

“…Mammalian cells typically contain hundreds of peroxisomes but can increase peroxisome abundance further in response to extracellular stimuli. We report here…”
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L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases by DODT, Gabriele, KIM, Do G., REIMANN, Sylvia A., REUBER, Bernadette E., MCCABE, Katherine, GOULD, Stephen J., MIHALIK, Stephanie J.

“…L-Pipecolic acid oxidase activity is deficient in patients with peroxisome biogenesis disorders (PBDs). Because its role, if any, in these disorders is…”
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Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli by Michael Schrader, Bernadette E. Reuber, James C. Morrell, Gerardo Jimenez-Sanchez, Cassandra Obie, Tina A. Stroh, David Valle, Trina A. Schroer, Stephen J. Gould

“…Mammalian cells typically contain hundreds of peroxisomes but can increase peroxisome abundance further in response to extracellular stimuli. We report here…”
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