Search Results - "Hellé, S"

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease by Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

“…Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and…”
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Effects of ketone bodies in Alzheimer's disease in relation to neural hypometabolism, [beta]-amyloid toxicity, and astrocyte function by Hertz, Leif, Chen, Ye, Waagepetersen, Helle S

“…Diet supplementation with ketone bodies (acetoacetate and [beta]-hydroxybuturate) or medium-length fatty acids generating ketone bodies has consistently been…”
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Astrocytic pyruvate carboxylation: Status after 35 years by Schousboe, Arne, Waagepetersen, Helle S., Sonnewald, Ursula

“…The first two publications dealing with the question of the cellular localization of the enzyme pyruvate carboxylase (PC) which in the brain represents the…”
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Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing by Aliferis, K., Hellé, S., Gyapay, G., Duchatelet, S., Stoetzel, C., Mandel, J.-L., Dollfus, H.

“…Introduction: Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical…”
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Astrocytic glycogen metabolism in the healthy and diseased brain by Bak, Lasse K., Walls, Anne B., Schousboe, Arne, Waagepetersen, Helle S.

“…The brain contains a fairly low amount of glycogen, mostly located in astrocytes, a fact that has prompted the suggestion that glycogen does not have a…”
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Glutamate metabolism and recycling at the excitatory synapse in health and neurodegeneration by Andersen, Jens V., Markussen, Kia H., Jakobsen, Emil, Schousboe, Arne, Waagepetersen, Helle S., Rosenberg, Paul A., Aldana, Blanca I.

“…Glutamate is the primary excitatory neurotransmitter of the brain. Cellular homeostasis of glutamate is of paramount importance for normal brain function and…”
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Effects of ketone bodies in Alzheimer's disease in relation to neural hypometabolism, β‐amyloid toxicity, and astrocyte function by Hertz, Leif, Chen, Ye, Waagepetersen, Helle S.

“…Diet supplementation with ketone bodies (acetoacetate and β‐hydroxybuturate) or medium‐length fatty acids generating ketone bodies has consistently been found…”
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The glutamate/GABA‐glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer by Bak, Lasse K., Schousboe, Arne, Waagepetersen, Helle S.

“…Neurons are metabolically handicapped in the sense that they are not able to perform de novo synthesis of neurotransmitter glutamate and γ‐aminobutyric acid…”
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Deficient astrocyte metabolism impairs glutamine synthesis and neurotransmitter homeostasis in a mouse model of Alzheimer's disease by Andersen, Jens V., Christensen, Sofie K., Westi, Emil W., Diaz-delCastillo, Marta, Tanila, Heikki, Schousboe, Arne, Aldana, Blanca I., Waagepetersen, Helle S.

“…Alzheimer's disease (AD) leads to cerebral accumulation of insoluble amyloid-β plaques causing synaptic dysfunction and neuronal death. Neurons rely on…”
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Narratives of empowerment and compliance: Studies of communication in online patient support groups by Wentzer, Helle S, Bygholm, Ann

“…Highlights ► Social technology can contribute to patient compliance and at the same time have empowerment potential. ► Demonstrate difference in individual…”
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Evaluation of the Precision ID Ancestry Panel for crime case work: A SNP typing assay developed for typing of 165 ancestral informative markers by Pereira, Vania, Mogensen, Helle S, Børsting, Claus, Morling, Niels

“…Highlights • Two populations from Denmark and Somalia were investigated with the Precision ID Ancestry Panel containing 165 ancestry informative markers. • The…”
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A tribute to Arne Schousboe's contributions to neurochemistry and his innovative and enduring research in GABA, glutamate, and brain energy metabolism by McKenna, Mary C, Sonnewald, Ursula, Waageptersen, Helle S, White, H Steve

“…This is a tribute to Arne Schousboe, Professor Emeritus at the University of Copenhagen, an eminent neurochemist and neuroscientist who was a leader in the…”
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In Memoriam: Arne Schousboe 1944–2024 by Andersen, Jens V., Waagepetersen, Helle S., Bak, Lasse K.

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The Glutamine–Glutamate/GABA Cycle: Function, Regional Differences in Glutamate and GABA Production and Effects of Interference with GABA Metabolism by Walls, Anne B., Waagepetersen, Helle S., Bak, Lasse K., Schousboe, Arne, Sonnewald, Ursula

“…The operation of a glutamine–glutamate/GABA cycle in the brain consisting of the transfer of glutamine from astrocytes to neurons and neurotransmitter…”
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Citrate, a Ubiquitous Key Metabolite with Regulatory Function in the CNS by Westergaard, Niels, Waagepetersen, Helle S., Belhage, Bo, Schousboe, Arne

“…Citrate is key constituent of the tricarboxylic acid (TCA) cycle, serves as substrate for fatty acid and sterol biosynthesis, and functions as a key regulator…”
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An exploratory analysis of alkaline phosphatase, lactate dehydrogenase, and prostate-specific antigen dynamics in the phase 3 ALSYMPCA trial with radium-223 by Sartor, O., Coleman, R.E., Nilsson, S., Heinrich, D., Helle, S.I., O’Sullivan, J.M., Vogelzang, N.J., Bruland, Ø., Kobina, S., Wilhelm, S., Xu, L., Shan, M., Kattan, M.W., Parker, C.

“…Baseline clinical variables are prognostic for overall survival (OS) in patients with castration-resistant prostate cancer (CRPC). Their prognostic and…”
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AMP‐activated protein kinase (AMPK) regulates astrocyte oxidative metabolism by balancing TCA cycle dynamics by Voss, Caroline M., Andersen, Jens V., Jakobsen, Emil, Siamka, Olga, Karaca, Melis, Maechler, Pierre, Waagepetersen, Helle S.

“…AMP‐activated protein kinase (AMPK) is an important energy sensor located in cells throughout the human body. From the periphery, AMPK is known to be a…”
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Alpha Emitter Radium-223 and Survival in Metastatic Prostate Cancer by Parker, C, Nilsson, S, Heinrich, D, Helle, S.I, O'Sullivan, J.M, Fosså, S.D, Chodacki, A, Wiechno, P, Logue, J, Seke, M, Widmark, A, Johannessen, D.C, Hoskin, P, Bottomley, D, James, N.D, Solberg, A, Syndikus, I, Kliment, J, Wedel, S, Boehmer, S, Dall'Oglio, M, Franzén, L, Coleman, R, Vogelzang, N.J, O'Bryan-Tear, C.G, Staudacher, K, Garcia-Vargas, J, Shan, M, Bruland, Ø.S, Sartor, O

“…In a study involving men with castration-resistant prostate cancer and bone metastases, the alpha emitter radium-223 significantly prolonged survival, as…”
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Glutamate oxidation in astrocytes: Roles of glutamate dehydrogenase and aminotransferases by McKenna, Mary C., Stridh, Malin H., McNair, Laura F., Sonnewald, Ursula, Waagepetersen, Helle S., Schousboe, Arne

“…The cellular distribution of transporters and enzymes related to glutamate metabolism led to the concept of the glutamate–glutamine cycle. Glutamate is…”
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Astrocytic Control of Biosynthesis and Turnover of the Neurotransmitters Glutamate and GABA by Schousboe, Arne, Bak, Lasse K, Waagepetersen, Helle S

“…Glutamate and GABA are the quantitatively major neurotransmitters in the brain mediating excitatory and inhibitory signaling, respectively. These amino acids…”
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