Search Results - "Wassif, Christopher A."

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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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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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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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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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease by Porter, Forbes D, Scherrer, David E, Lanier, Michael H, Langmade, S Joshua, Molugu, Vasumathi, Gale, Sarah E, Olzeski, Dana, Sidhu, Rohini, Dietzen, Dennis J, Fu, Rao, Wassif, Christopher A, Yanjanin, Nicole M, Marso, Steven P, House, John, Vite, Charles, Schaffer, Jean E, Ory, Daniel S

“…Niemann-Pick type C1 (NPC1) disease is a rare progressive neurodegenerative disorder characterized by accumulation of cholesterol in the endolysosomes…”
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Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella by Cougnoux, Antony, Yerger, Julia C, Fellmeth, Mason, Serra-Vinardell, Jenny, Martin, Kyle, Navid, Fatemeh, Iben, James, Wassif, Christopher A, Cawley, Niamh X, Porter, Forbes D

“…Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by endolysosomal storage of unesterified cholesterol and decreased cellular…”
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Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1 by Farhat, Nicole Y, Alexander, Derek, McKee, Kyli, Iben, James, Rodriguez-Gil, Jorge L, Wassif, Christopher A, Cawley, Niamh X, Balch, William E, Porter, Forbes D

“…Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked…”
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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts by Newton, Jason, Hait, Nitai C., Maceyka, Michael, Colaco, Alexandria, Maczis, Melissa, Wassif, Christopher A., Cougnoux, Antony, Porter, Forbes D., Milstien, Sheldon, Platt, Nicholas, Platt, Frances M., Spiegel, Sarah

“…Niemann‐Pick type C (NPC) disease is a fatal neurodegenerative disorder caused by mutations in NPC1 or NPC2 with decreased functions leading to lysosomal…”
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Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology by Cawley, Niamh X, Lyons, Anna T, Abebe, Daniel, Luke, Rachel, Yerger, Julia, Telese, Rebecca, Wassif, Christopher A, Bailey-Wilson, Joan E, Porter, Forbes D

“…Complex asparagine-linked glycosylation plays key roles in cellular functions, including cellular signaling, protein stability, and immune response…”
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A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1 by Li, Wenping, Pergande, Melissa R., Crutchfield, Christopher A., Searle, Brian C., Backlund, Peter S., Picache, Jaqueline A., Burkert, Kathryn, Yanjanin‐Farhat, Nicole M., Blank, Paul S., Toth, Cynthia L., Wassif, Christopher A., Porter, Forbes D., Cologna, Stephanie M.

“…Niemann‐Pick, type C1 (NPC1) is a fatal, neurodegenerative disease, which belongs to the family of lysosomal diseases. In NPC1, endo/lysosomal accumulation of…”
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Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions by Dwojak, Ewelina, O’Mard, Danielle, Zou, Jizhong, Wassif, Christopher A., Burkett, Sandra, Eckhaus, Michael, Rueda Faucz, Fabio, Padilla, Cameron, Villasmil, Rafael, Zheng, Wei, Dang Do, An N.

“…Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B,…”
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A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 by Prabhu, Anika V, Kang, Insung, De Pace, Raffaella, Wassif, Christopher A, Fujiwara, Hideji, Kell, Pamela, Jiang, Xuntian, Ory, Daniel S, Bonifacino, Juan S, Ward, Michael E, Porter, Forbes D

“…Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2…”
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Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1 by Martin, Kyle B, Williams, Ian M, Cluzeau, Celine V, Cougnoux, Antony, Dale, Ryan K, Iben, James R, Cawley, Niamh X, Wassif, Christopher A, Porter, Forbes D

“…Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by progressive cerebellar ataxia. In NPC1, a defect in cholesterol transport leads to…”
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Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1 by CLUZEAU, Celine V. M, WATKINS-CHOW, Dawn E, PAVAN, William J, PORTER, Forbes D, RAO FU, BORATE, Bhavesh, YANJANIN, Nicole, DAIL, Michelle K, DAVIDSON, Cristin D, WALKLEY, Steven U, ORY, Daniel S, WASSIF, Christopher A

“…Niemann-Pick disease type C (NPC) is a lysosomal storage disorder characterized by liver disease and progressive neurodegeneration. Deficiency of either NPC1…”
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Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1 by Cawley, Niamh X, Lyons, Anna T, Abebe, Daniel, Wassif, Christopher A, Porter, Forbes D

“…Niemann-Pick disease, type C1, is a cholesterol storage disease where unesterified cholesterol accumulates intracellularly. In the cerebellum this causes…”
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Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds by Tseng, Wei-Chia, Loeb, Hannah E, Pei, Wuhong, Tsai-Morris, Chon-Hwa, Xu, Lisha, Cluzeau, Celine V, Wassif, Christopher A, Feldman, Benjamin, Burgess, Shawn M, Pavan, William J, Porter, Forbes D

“…Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1 is characterized by abnormal…”
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Unique molecular signature in mucolipidosis type IV microglia by Cougnoux, Antony, Drummond, Rebecca A, Fellmeth, Mason, Navid, Fatemeh, Collar, Amanda L, Iben, James, Kulkarni, Ashok B, Pickel, James, Schiffmann, Raphael, Wassif, Christopher A, Cawley, Niamh X, Lionakis, Michail S, Porter, Forbes D

“…Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to…”
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NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls by Probert, Fay, Ruiz-Rodado, Victor, Vruchte, Danielle te, Nicoli, Elena-Raluca, Claridge, Tim D. W., Wassif, Christopher A., Farhat, Nicole, Porter, Forbes D., Platt, Frances M., Grootveld, Martin

“…Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical…”
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Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits by Tierney, Elaine, Remaley, Alan T., Thurm, Audrey, Jager, Leah R., Wassif, Christopher A., Kratz, Lisa E., Bailey-Wilson, Joan E., Bukelis, Irena, Sarphare, Geeta, Jung, Eun Sol, Brand, Boudewien, Noah, Kelly K., Porter, Forbes D.

“…An improved understanding of sterol and lipid abnormalities in individuals with autism spectrum disorder (ASD) could lead to personalized treatment approaches…”
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Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight by Cologna, Stephanie M, Jiang, Xiao-Sheng, Backlund, Peter S, Cluzeau, Celine V M, Dail, Michelle K, Yanjanin, Nicole M, Siebel, Stephan, Toth, Cynthia L, Jun, Hyun-sik, Wassif, Christopher A, Yergey, Alfred L, Porter, Forbes D

“…Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including…”
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