Search Results - "Porter, Forbes"

Malformation syndromes caused by disorders of cholesterol synthesis by Porter, Forbes D., Herman, Gail E.

“…Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological…”
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Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome by Selvaraman, Aishwarya, Rahhal, Samar, Bianconi, Simona, Furnary, Tristan, Porter, Forbes D

“…Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme…”
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Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management by PORTER, Forbes D

“…Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the…”
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Trifunctional lipid probes for comprehensive studies of single lipid species in living cells by Höglinger, Doris, Nadler, André, Haberkant, Per, Kirkpatrick, Joanna, Schifferer, Martina, Stein, Frank, Hauke, Sebastian, Porter, Forbes D., Schultz, Carsten

“…Lipid-mediated signaling events regulate many cellular processes. Investigations of the complex underlying mechanisms are difficult because several different…”
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Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial by Ory, Daniel S, Ottinger, Elizabeth A, Farhat, Nicole Yanjanin, King, Kelly A, Jiang, Xuntian, Weissfeld, Lisa, Berry-Kravis, Elizabeth, Davidson, Cristin D, Bianconi, Simona, Keener, Lee Ann, Rao, Ravichandran, Soldatos, Ariane, Sidhu, Rohini, Walters, Kimberly A, Xu, Xin, Thurm, Audrey, Solomon, Beth, Pavan, William J, Machielse, Bernardus N, Kao, Mark, Silber, Steven A, McKew, John C, Brewer, Carmen C, Vite, Charles H, Walkley, Steven U, Austin, Christopher P, Porter, Forbes D

“…Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,…”
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Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology by Cawley, Niamh X, Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T, Nicoli, Elena-Raluca, Wassif, Christopher A, Porter, Forbes D

“…A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of Purkinje neurons in the cerebellum caused by the accumulation of free…”
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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets by Wassif, Christopher A., Cross, Joanna L., Iben, James, Sanchez-Pulido, Luis, Cougnoux, Antony, Platt, Frances M., Ory, Daniel S., Ponting, Chris P., Bailey-Wilson, Joan E., Biesecker, Leslie G., Porter, Forbes D.

“…Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is…”
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CLN3 is required for the clearance of glycerophosphodiesters from lysosomes by Laqtom, Nouf N., Dong, Wentao, Medoh, Uche N., Cangelosi, Andrew L., Dharamdasani, Vimisha, Chan, Sze Ham, Kunchok, Tenzin, Lewis, Caroline A., Heinze, Ivonne, Tang, Rachel, Grimm, Christian, Dang Do, An N., Porter, Forbes D., Ori, Alessandro, Sabatini, David M., Abu-Remaileh, Monther

“…Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus 1 . Lysosomal dysfunction occurs in various human conditions, such…”
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Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1 by Yergey, Alfred L, Blank, Paul S, Cologna, Stephanie M, Backlund, Peter S, Porter, Forbes D, Darling, Allan J

“…2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive,…”
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Intracellular sphingosine releases calcium from lysosomes by Höglinger, Doris, Haberkant, Per, Aguilera-Romero, Auxiliadora, Riezman, Howard, Porter, Forbes D, Platt, Frances M, Galione, Antony, Schultz, Carsten

“…To elucidate new functions of sphingosine (Sph), we demonstrate that the spontaneous elevation of intracellular Sph levels via caged Sph leads to a significant…”
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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease by Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.

“…This article describes a rapid UPLC‐MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in…”
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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention by Cougnoux, Antony, Drummond, Rebecca A, Collar, Amanda L, Iben, James R, Salman, Alexander, Westgarth, Harrison, Wassif, Christopher A, Cawley, Niamh X, Farhat, Nicole Y, Ozato, Keiko, Lionakis, Michail S, Porter, Forbes D

“…Abstract Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative disorder with limited treatment options. NPC1 is associated with neuroinflammation;…”
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Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease by Ottinger, Elizabeth A, Kao, Mark L, Carrillo-Carrasco, Nuria, Yanjanin, Nicole, Shankar, Roopa Kanakatti, Janssen, Marjo, Brewster, Marcus, Scott, Ilona, Xu, Xin, Cradock, Jim, Terse, Pramod, Dehdashti, Seameen J, Marugan, Juan, Zheng, Wei, Portilla, Lili, Hubbs, Alan, Pavan, William J, Heiss, John, Vite, Charles H, Walkley, Steven U, Ory, Daniel S, Silber, Steven A, Porter, Forbes D, Austin, Christopher P, McKew, John C

“…In 2010, the National Institutes of Health (NIH) established the Therapeutics for Rare and Neglected Diseases (TRND) program within the National Center for…”
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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3 by Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.

“…Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in CLN3, which encodes the endolysosomal transmembrane CLN3 protein…”
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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1 by Mishra, Sonali, Kell, Pamela, Scherrer, David, Dietzen, Dennis J., Vite, Charles H., Berry-Kravis, Elizabeth, Davidson, Cristin, Cologna, Stephanie M., Porter, Forbes D., Ory, Daniel S., Jiang, Xuntian

“…Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal…”
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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S] by Jiang, Xuntian, Sidhu, Rohini, Porter, Forbes D., Yanjanin, Nicole M., Speak, Anneliese O., te Vruchte, Danielle Taylor, Platt, Frances M., Fujiwara, Hideji, Scherrer, David E., Zhang, Jessie, Dietzen, Dennis J., Schaffer, Jean E., Ory, Daniel S.

“…Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative disease for which there are no FDA-approved therapies. A major barrier to…”
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Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1 by Farmer, Cristan A., Thurm, Audrey, Farhat, Nicole, Bianconi, Simona, Keener, Lee Ann, Porter, Forbes D.

“…Background Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative condition that arises from mutations of NPC1 and is often diagnosed in children…”
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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1 by Agrawal, Neena, Farhat, Nicole Y., Sinaii, Ninet, Do, An Dang, Xiao, Changrui, Berry-Kravis, Elizabeth, Bianconi, Simona, Masvekar, Ruturaj, Bielekova, Bibiana, Solomon, Beth, Porter, Forbes D.

“…Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder caused by pathogenic variants in NPC1. Disease progression is monitored using the…”
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Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease by Platt, Frances M, Wassif, Christopher, Colaco, Alexandria, Dardis, Andrea, Lloyd-Evans, Emyr, Bembi, Bruno, Porter, Forbes D

“…Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the…”
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Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model by Pergande, Melissa R, Cougnoux, Antony, Rathnayake, Rathnayake A C, Porter, Forbes D, Cologna, Stephanie M

“…Niemann-Pick disease, type C1 (NPC1) is a rare, autosomal recessive, lipid storage disorder caused by mutations in . As a result, there is accumulation of…”
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