Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study (2008)
Gupta, Surya N, Ries, Markus, Murray, Gary J, Quirk, Jane M, Brady, Roscoe O, Lidicker, Jeffrey R, ...
Abstract Background We previously demonstrated improved sweating after enzyme replacement therapy (ERT) in Fabry disease using the thermo-regularity sweat and quantitative sudomotor axon reflex...
Hickman, David T, Pihlgren, Maria, Chuard, Nathalie, Giriens, Valérie, Meerschman, Carine, ...
We investigated the therapeutic effects of two different versions of Abeta(1-15 (16)) liposome-based vaccines. Inoculation of APP-V717IxPS-1 (APPxPS-1) double-transgenic mice with tetra-palmitoylated...
Murine models of acute neuronopathic Gaucher disease. (2007)
Enquist, Ida Berglin, Bianco, Christophe Lo, Ooka, Andreas, Nilsson, Eva, Mansson, Jan-Eric, Ehinger, Mats, ...
Abstract is not available
Effective cell and gene therapy in a murine model of Gaucher disease. (2006)
Enquist, Ida Berglin, Nilsson, Eva, Ooka, Andreas, Mansson, Jan-Eric, Olsson, Karin, Ehinger, Mats, ...
Abstract is not available
Schiffmann, Raphael, Ries, Markus, Timmons, Margaret, Flaherty, John T., Brady, Roscoe O.
Background. Fabry disease is an X-linked disorder of glycosphingolipid catabolism that is the result of an intracellular deficiency in the lysosomal enzyme α-galactosidase A (α-Gal A). This...
Schiffmann, Raphael, Ries, Markus, Timmons, Margaret, Flaherty, John T., Brady, Roscoe O.
Background. Fabry disease is an X-linked disorder of glycosphingolipid catabolism that is the result of an intracellular deficiency in the lysosomal enzyme α-galactosidase A (α-Gal A). This...
Schiffmann, Raphael, Ries, Markus, Timmons, Margaret, Flaherty, John T., Brady, Roscoe O.
Background. Fabry disease is an X-linked disorder of glycosphingolipid catabolism that is the result of an intracellular deficiency in the lysosomal enzyme α-galactosidase A (α-Gal A). This...
Radin, Norman S., Hof, Liselotte, Bradley, Roy M., Brady, Roscoe O.
Four enzyme assays were carried out with brains from rats of age 4 days to about 320 days. The enzymes were acid hydrolases: lactosylceramide galactosidases, galactosylphenol galactosidase,...
Purification of serine racemase: Biosynthesis of the neuromodulator d-serine
Wolosker, Herman, Sheth, Kevin N., Takahashi, Masaaki, Mothet, Jean-Pierre, Brady, Roscoe O., Ferris, Christopher D., ...
High levels of d-serine occur in mammalian brain, where it appears to be an endogenous ligand of the glycine site of N-methyl-d-aspartate receptors. In glial cultures of rat cerebral cortex, d-serine...
Watari, Hidemichi, Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Glick, Jane M., Patel, Shutish, Neufeld, Edward B., ...
Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder that affects the viscera and central nervous system. A characteristic feature of NPC cells is the lysosomal accumulation of...
Patel, Shutish C., Suresh, Sundar, Kumar, Ujendra, Hu, C. Y., Cooney, Adele, Blanchette-Mackie, E. Joan, ...
Niemann–Pick type C disease (NP-C) is an inherited neurovisceral lipid storage disorder characterized by progressive neurodegeneration. Most cases of NP-C result from inactivating mutations of...
Takenaka, Toshihiro, Murray, Gary J., Qin, Gangjian, Quirk, Jane M., Ohshima, Toshio, Qasba, Pankaj, ...
Fabry disease is a compelling target for gene therapy as a treatment strategy. A deficiency in the lysosomal hydrolase α-galactosidase A (α-gal A; EC 3.2.1.22) leads to impaired catabolism of...
Lai, Zhennan, Han, Ina, Zirzow, Gregory, Brady, Roscoe O., Reiser, Jakob
Effective gene therapy depends on the efficient transfer of therapeutic genes and their protein products to target cells. Lentiviral vectors appear promising for virus-mediated gene delivery and...
Mucolipidosis IV consists of one complementation group
Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. Recently, there has been considerable interest in...
d-Serine is an endogenous ligand for the glycine site of the N-methyl-d-aspartate receptor
Mothet, Jean-Pierre, Parent, Angèle T., Wolosker, Herman, Brady, Roscoe O., Linden, David J., Ferris, Christopher D., ...
Functional activity of N-methyl-d-aspartate (NMDA) receptors requires both glutamate binding and the binding of an endogenous coagonist that has been presumed to be glycine, although d-serine is a...
Constitutive achlorhydria in mucolipidosis type IV
Schiffmann, Raphael, Dwyer, Nancy K., Lubensky, Irina A., Tsokos, Maria, Sutliff, Vincent E., Latimer, John S., ...
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological abnormalities. In an attempt to obtain insight into...
α-Galactosidase A deficient mice: A model of Fabry disease
Ohshima, Toshio, Murray, Gary J., Swaim, William D., Longenecker, Glenn, Quirk, Jane M., Cardarelli, Carol O., ...
Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of α-galactosidase A (α-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal...
Puri, Anu, Hug, Peter, Jernigan, Kristine, Barchi, Joseph, Kim, Hee-Yong, Hamilton, Jillon, ...
Previously, we showed that the addition of human erythrocyte glycosphingolipids (GSLs) to nonhuman CD4+ or GSL-depleted human CD4+ cells rendered those cells susceptible to HIV-1 envelope...
Ohshima, Toshio, Schiffmann, Raphael, Murray, Gary J., Kopp, Jeffrey, Quirk, Jane M., Stahl, Stefanie, ...
Fabry disease is an X-linked metabolic disorder caused by a deficiency of α-galactosidase A (α-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with α-galactosyl...
Jung, Sung-Chul, Han, Ina P., Limaye, Advait, Xu, Ruian, Gelderman, Monique P., Zerfas, Patricia, ...
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). This enzyme deficiency leads to impaired catabolism of...
Ohshima, Toshio, Ogawa, Masaharu, Hirasawa, Motoyuki, Longenecker, Glenn, Ishiguro, Koichi, ...
Cyclin-dependent kinase (Cdk) 5 is a unique member of the Cdk family, because Cdk5 kinase activity is detected only in the nervous tissue. Two neuron-specific activating subunits of Cdk5, p35 and...
Preselective gene therapy for Fabry disease
Qin, Gangjian, Takenaka, Toshihiro, Telsch, Kimberly, Kelley, Leslie, Howard, Tazuko, Levade, Thierry, ...
Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme α-galactosidase A (α-gal A; EC 3.2.1.22). We previously have demonstrated long-term α-gal A...
Regulation of NMDA receptors by cyclin-dependent kinase-5
Li, Bing-Sheng, Sun, Miao-Kun, Zhang, Lei, Takahashi, Satoru, Ma, Wu, Vinade, Lucia, ...
Members of the N-methyl-d-aspartate (NMDA) class of glutamate receptors (NMDARs) are critical for development, synaptic transmission, learning and memory; they are targets of pathological disorders...
Mochizuki, Hideki, Schwartz, Joan P., Tanaka, Koichi, Brady, Roscoe O., Reiser, Jakob
Previously we designed novel pseudotyped high-titer replication defective human immunodeficiency virus type 1 (HIV-1) vectors to deliver genes into nondividing cells (J. Reiser, G. Harmison, S....
Development of Multigene and Regulated Lentivirus Vectors
Reiser, Jakob, Lai, Zhennan, Zhang, Xian-Yang, Brady, Roscoe O.
Previously we described safe and efficient three-component human immunodeficiency virus type 1 (HIV-1)-based gene transfer systems for delivery of genes into nondividing cells (H. Mochizuki, J. P....
Lai, Zhennan, Han, Ina, Park, Misun, Brady, Roscoe O.
The recent development of HIV-1 lentiviral vectors is especially useful for gene transfer because they achieve efficient integration into nondividing cell genomes and successful long-term expression...
Park, Jinhee, Murray, Gary J., Limaye, Advait, Quirk, Jane M., Gelderman, Monique P., Brady, Roscoe O., ...
Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and vascular accumulation of globotriaosylceramide (Gb3) caused by a deficiency of the lysosomal enzyme...
GANGLIOSIDES IN DNA VIRUS-TRANSFORMED AND SPONTANEOUSLY TRANSFORMED TUMORIGENIC MOUSE CELL LINES
Mora, Peter T., Brady, Roscoe O., Bradley, Roy M., McFarland, Vivian W.
In mouse cell lines transformed by SV40 virus, a decrease was observed in the higher ganglioside homologues disialo-ceramidetetrahexoside and monosialo-ceramidetetrahexoside. Such change was observed...
Cumar, Federico A., Brady, Roscoe O., Kolodny, Edwin H., McFarland, Vivian W., Mora, Peter T.
The ganglioside pattern of both SV40- and polyoma virus-transformed mouse cell lines differs from that of the parent cell lines or of cell lines that have transformed spontaneously in tissue culture....
Tallman, John F., Johnson, William G., Brady, Roscoe O.
The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain...
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation
Abe, Akira, Gregory, Susan, Lee, Lihsueh, Killen, Paul D., Brady, Roscoe O., Kulkarni, Ashok, ...
We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in α-galactosidase A (α-gal A) knockout mice, a model of Fabry...
Chemical chaperone therapy for brain pathology in GM1-gangliosidosis
Matsuda, Junichiro, Suzuki, Osamu, Oshima, Akihiro, Yamamoto, Yoshie, Noguchi, Akira, Takimoto, Kazuhiro, ...
We synthesized a galactose derivative, N-octyl-4-epi-β-valienamine (NOEV), for a molecular therapy (chemical chaperone therapy) of a human neurogenetic disease, β-galactosidosis (GM1-gangliosidosis...
Selective Effects of Glucocerebroside (Gaucher's Storage Material) on Macrophage Cultures
Gery, Igal, Zigler, J. Samuel, Brady, Roscoe O., Barranger, John A.
Although the enzymatic lesion in Gaucher's disease is well established, little is known concerning the pathogenic mechanisms involved in the clinical manifestations of the disease. In order to obtain...
Steer, Clifford J., Kusiak, John W., Brady, Roscoe O., Jones, E. Anthony
Intravenously administered 125I-labeled human β-hexosaminidase A (β-N-acetylglucosaminidase; 2-acetamido-2-deoxy-β-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.30) was rapidly cleared from...
Fishman, Peter H., Brady, Roscoe O., Bradley, Roy M., Aaronson, Stuart A., Todaro, George J.
The ganglioside composition of a nonproducer subclone (derived from BALB/c 3T3 mouseembryo cells) transformed by Kirsten murine sarcoma virus was drastically altered compared to the nontransformed...
Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects
Hirasawa, Motoyuki, Ohshima, Toshio, Takahashi, Satoru, Longenecker, Glenn, Honjo, Yasuyuki, ...
Cyclin-dependent kinase 5 (Cdk5) is essential for the proper development of the CNS, as is evident from the perinatal lethality of conventional Cdk5 knockout (Cdk5-/-) mice. Cdk5 is also implicated...
Interaction of human chorionic gonadotropin with membrane components of rat testes
Pacuszka, Tadeusz, Osborne, James C., Brady, Roscoe O., Fishman, Peter H.
Previous studies demonstrating that gangliosides interacted with thyrotropin and human chorionic gonadotropin (hCG) suggested that gangliosides participate in the transduction of the hormonal message...
Yoshimitsu, Makoto, Sato, Takeya, Tao, Kesheng, Walia, Jagdeep S., Rasaiah, Vanessa I., Sleep, Gillian T., ...
Successful therapy for many inherited disorders could be improved if the intervention were initiated early. This is especially true for lysosomal storage disorders. Earlier intervention may allow...
Takahashi, Satoru, Ohshima, Toshio, Cho, Andrew, Sreenath, Taduru, Iadarola, Michael J., Pant, Harish C., ...
Cocaine, a drug of abuse, increases synaptic dopamine levels in the striatum by blocking dopamine reuptake at axon terminals. Cyclin-dependent kinase 5 (Cdk5) and its activator p35, proteins involved...
Cyclin-dependent kinase 5 activity regulates pain signaling
Pareek, Tej K., Keller, Jason, Kesavapany, Sashi, Pant, Harish C., Iadarola, Michael J., Brady, Roscoe O., ...
Several molecules and cellular pathways have been implicated in nociceptive signaling, but their precise molecular mechanisms have not been clearly defined. Cyclin-dependent kinase 5 (Cdk5) is a...
A multifunctional cytoprotective agent that reduces neurodegeneration after ischemia
Jiang, Zhi-Gang, Lu, X.-C. May, Nelson, Valery, Yang, Xiaofang, Pan, Weiying, Chen, Ren-wu, ...
Cellular and molecular pathways underlying ischemic neurotoxicity are multifaceted and complex. Although many potentially neuroprotective agents have been investigated, the simplicity of their...
Purification of serine racemase: Biosynthesis of the neuromodulator d-serine
Wolosker, Herman, Sheth, Kevin N., Takahashi, Masaaki, Mothet, Jean-Pierre, Brady, Roscoe O., Ferris, Christopher D., ...
High levels of d-serine occur in mammalian brain, where it appears to be an endogenous ligand of the glycine site of N-methyl-d-aspartate receptors. In glial cultures of rat cerebral cortex, d-serine...
Watari, Hidemichi, Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Glick, Jane M., Patel, Shutish, Neufeld, Edward B., ...
Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder that affects the viscera and central nervous system. A characteristic feature of NPC cells is the lysosomal accumulation of...
Patel, Shutish C., Suresh, Sundar, Kumar, Ujendra, Hu, C. Y., Cooney, Adele, Blanchette-Mackie, E. Joan, ...
Niemann–Pick type C disease (NP-C) is an inherited neurovisceral lipid storage disorder characterized by progressive neurodegeneration. Most cases of NP-C result from inactivating mutations of...
Takenaka, Toshihiro, Murray, Gary J., Qin, Gangjian, Quirk, Jane M., Ohshima, Toshio, Qasba, Pankaj, ...
Fabry disease is a compelling target for gene therapy as a treatment strategy. A deficiency in the lysosomal hydrolase α-galactosidase A (α-gal A; EC 3.2.1.22) leads to impaired catabolism of...
Lai, Zhennan, Han, Ina, Zirzow, Gregory, Brady, Roscoe O., Reiser, Jakob
Effective gene therapy depends on the efficient transfer of therapeutic genes and their protein products to target cells. Lentiviral vectors appear promising for virus-mediated gene delivery and...
Mucolipidosis IV consists of one complementation group
Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. Recently, there has been considerable interest in...
d-Serine is an endogenous ligand for the glycine site of the N-methyl-d-aspartate receptor
Mothet, Jean-Pierre, Parent, Angèle T., Wolosker, Herman, Brady, Roscoe O., Linden, David J., Ferris, Christopher D., ...
Functional activity of N-methyl-d-aspartate (NMDA) receptors requires both glutamate binding and the binding of an endogenous coagonist that has been presumed to be glycine, although d-serine is a...
Constitutive achlorhydria in mucolipidosis type IV
Schiffmann, Raphael, Dwyer, Nancy K., Lubensky, Irina A., Tsokos, Maria, Sutliff, Vincent E., Latimer, John S., ...
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological abnormalities. In an attempt to obtain insight into...
α-Galactosidase A deficient mice: A model of Fabry disease
Ohshima, Toshio, Murray, Gary J., Swaim, William D., Longenecker, Glenn, Quirk, Jane M., Cardarelli, Carol O., ...
Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of α-galactosidase A (α-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal...
Puri, Anu, Hug, Peter, Jernigan, Kristine, Barchi, Joseph, Kim, Hee-Yong, Hamilton, Jillon, ...
Previously, we showed that the addition of human erythrocyte glycosphingolipids (GSLs) to nonhuman CD4+ or GSL-depleted human CD4+ cells rendered those cells susceptible to HIV-1 envelope...
Ohshima, Toshio, Schiffmann, Raphael, Murray, Gary J., Kopp, Jeffrey, Quirk, Jane M., Stahl, Stefanie, ...
Fabry disease is an X-linked metabolic disorder caused by a deficiency of α-galactosidase A (α-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with α-galactosyl...
Jung, Sung-Chul, Han, Ina P., Limaye, Advait, Xu, Ruian, Gelderman, Monique P., Zerfas, Patricia, ...
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). This enzyme deficiency leads to impaired catabolism of...
Ohshima, Toshio, Ogawa, Masaharu, Hirasawa, Motoyuki, Longenecker, Glenn, Ishiguro, Koichi, ...
Cyclin-dependent kinase (Cdk) 5 is a unique member of the Cdk family, because Cdk5 kinase activity is detected only in the nervous tissue. Two neuron-specific activating subunits of Cdk5, p35 and...
Preselective gene therapy for Fabry disease
Qin, Gangjian, Takenaka, Toshihiro, Telsch, Kimberly, Kelley, Leslie, Howard, Tazuko, Levade, Thierry, ...
Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme α-galactosidase A (α-gal A; EC 3.2.1.22). We previously have demonstrated long-term α-gal A...
Regulation of NMDA receptors by cyclin-dependent kinase-5
Li, Bing-Sheng, Sun, Miao-Kun, Zhang, Lei, Takahashi, Satoru, Ma, Wu, Vinade, Lucia, ...
Members of the N-methyl-d-aspartate (NMDA) class of glutamate receptors (NMDARs) are critical for development, synaptic transmission, learning and memory; they are targets of pathological disorders...
Mochizuki, Hideki, Schwartz, Joan P., Tanaka, Koichi, Brady, Roscoe O., Reiser, Jakob
Previously we designed novel pseudotyped high-titer replication defective human immunodeficiency virus type 1 (HIV-1) vectors to deliver genes into nondividing cells (J. Reiser, G. Harmison, S....
Development of Multigene and Regulated Lentivirus Vectors
Reiser, Jakob, Lai, Zhennan, Zhang, Xian-Yang, Brady, Roscoe O.
Previously we described safe and efficient three-component human immunodeficiency virus type 1 (HIV-1)-based gene transfer systems for delivery of genes into nondividing cells (H. Mochizuki, J. P....
Lai, Zhennan, Han, Ina, Park, Misun, Brady, Roscoe O.
The recent development of HIV-1 lentiviral vectors is especially useful for gene transfer because they achieve efficient integration into nondividing cell genomes and successful long-term expression...
Park, Jinhee, Murray, Gary J., Limaye, Advait, Quirk, Jane M., Gelderman, Monique P., Brady, Roscoe O., ...
Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and vascular accumulation of globotriaosylceramide (Gb3) caused by a deficiency of the lysosomal enzyme...
GANGLIOSIDES IN DNA VIRUS-TRANSFORMED AND SPONTANEOUSLY TRANSFORMED TUMORIGENIC MOUSE CELL LINES
Mora, Peter T., Brady, Roscoe O., Bradley, Roy M., McFarland, Vivian W.
In mouse cell lines transformed by SV40 virus, a decrease was observed in the higher ganglioside homologues disialo-ceramidetetrahexoside and monosialo-ceramidetetrahexoside. Such change was observed...
Cumar, Federico A., Brady, Roscoe O., Kolodny, Edwin H., McFarland, Vivian W., Mora, Peter T.
The ganglioside pattern of both SV40- and polyoma virus-transformed mouse cell lines differs from that of the parent cell lines or of cell lines that have transformed spontaneously in tissue culture....
Tallman, John F., Johnson, William G., Brady, Roscoe O.
The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain...
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation
Abe, Akira, Gregory, Susan, Lee, Lihsueh, Killen, Paul D., Brady, Roscoe O., Kulkarni, Ashok, ...
We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in α-galactosidase A (α-gal A) knockout mice, a model of Fabry...
Chemical chaperone therapy for brain pathology in GM1-gangliosidosis
Matsuda, Junichiro, Suzuki, Osamu, Oshima, Akihiro, Yamamoto, Yoshie, Noguchi, Akira, Takimoto, Kazuhiro, ...
We synthesized a galactose derivative, N-octyl-4-epi-β-valienamine (NOEV), for a molecular therapy (chemical chaperone therapy) of a human neurogenetic disease, β-galactosidosis (GM1-gangliosidosis...
Selective Effects of Glucocerebroside (Gaucher's Storage Material) on Macrophage Cultures
Gery, Igal, Zigler, J. Samuel, Brady, Roscoe O., Barranger, John A.
Although the enzymatic lesion in Gaucher's disease is well established, little is known concerning the pathogenic mechanisms involved in the clinical manifestations of the disease. In order to obtain...
Steer, Clifford J., Kusiak, John W., Brady, Roscoe O., Jones, E. Anthony
Intravenously administered 125I-labeled human β-hexosaminidase A (β-N-acetylglucosaminidase; 2-acetamido-2-deoxy-β-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.30) was rapidly cleared from...
Fishman, Peter H., Brady, Roscoe O., Bradley, Roy M., Aaronson, Stuart A., Todaro, George J.
The ganglioside composition of a nonproducer subclone (derived from BALB/c 3T3 mouseembryo cells) transformed by Kirsten murine sarcoma virus was drastically altered compared to the nontransformed...
Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects
Hirasawa, Motoyuki, Ohshima, Toshio, Takahashi, Satoru, Longenecker, Glenn, Honjo, Yasuyuki, ...
Cyclin-dependent kinase 5 (Cdk5) is essential for the proper development of the CNS, as is evident from the perinatal lethality of conventional Cdk5 knockout (Cdk5-/-) mice. Cdk5 is also implicated...
Interaction of human chorionic gonadotropin with membrane components of rat testes
Pacuszka, Tadeusz, Osborne, James C., Brady, Roscoe O., Fishman, Peter H.
Previous studies demonstrating that gangliosides interacted with thyrotropin and human chorionic gonadotropin (hCG) suggested that gangliosides participate in the transduction of the hormonal message...
Yoshimitsu, Makoto, Sato, Takeya, Tao, Kesheng, Walia, Jagdeep S., Rasaiah, Vanessa I., Sleep, Gillian T., ...
Successful therapy for many inherited disorders could be improved if the intervention were initiated early. This is especially true for lysosomal storage disorders. Earlier intervention may allow...
Takahashi, Satoru, Ohshima, Toshio, Cho, Andrew, Sreenath, Taduru, Iadarola, Michael J., Pant, Harish C., ...
Cocaine, a drug of abuse, increases synaptic dopamine levels in the striatum by blocking dopamine reuptake at axon terminals. Cyclin-dependent kinase 5 (Cdk5) and its activator p35, proteins involved...
Cyclin-dependent kinase 5 activity regulates pain signaling
Pareek, Tej K., Keller, Jason, Kesavapany, Sashi, Pant, Harish C., Iadarola, Michael J., Brady, Roscoe O., ...
Several molecules and cellular pathways have been implicated in nociceptive signaling, but their precise molecular mechanisms have not been clearly defined. Cyclin-dependent kinase 5 (Cdk5) is a...
A multifunctional cytoprotective agent that reduces neurodegeneration after ischemia
Jiang, Zhi-Gang, Lu, X.-C. May, Nelson, Valery, Yang, Xiaofang, Pan, Weiying, Chen, Ren-wu, ...
Cellular and molecular pathways underlying ischemic neurotoxicity are multifaceted and complex. Although many potentially neuroprotective agents have been investigated, the simplicity of their...
Enzyme replacement therapy: conception, chaos and culmination.
Soon after the enzymatic defects in Gaucher disease and in Niemann-Pick disease were discovered, enzyme replacement or enzyme supplementation was proposed as specific treatment for patients with...
Effective cell and gene therapy in a murine model of Gaucher disease
Enquist, Ida Berglin, Nilsson, Eva, Ooka, Andreas, Månsson, Jan-Eric, Olsson, Karin, Ehinger, Mats, ...
Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency in the enzyme glucosylceramidase (GCase) that causes hepatosplenomegaly, cytopenias, and bone disease as key...
Pareek, Tej K., Keller, Jason, Kesavapany, Sashi, Agarwal, Nitin, Kuner, Rohini, Pant, Harish C., ...
Transient receptor potential vanilloid 1 (TRPV1), a ligand-gated cation channel highly expressed in small-diameter sensory neurons, is activated by heat, protons, and capsaicin. The phosphorylation...
Moore, David F., Krokhin, Oleg V., Beavis, Ronald C., Ries, Markus, Robinson, Chevalia, Goldin, Ehud, ...
Fabry disease is inherited as an X-linked disorder secondary to deficiency of α-galactosidase A, resulting in abnormal metabolism of substances containing α-d-galactosyl moieties. As a consequence,...
Moore, David F., Gelderman, Monique P., Ferreira, Paulo A., Fuhrmann, Steven R., Yi, Haiqing, Elkahloun, Abdel, ...
Fabry disease is a disorder of α-d-galactosyl-containing glycolipids resulting from a deficiency of α-galactosidase A. Patients have a poorly understood vascular dysregulation. We hypothesized that...
Muhs, Andreas, Hickman, David T., Pihlgren, Maria, Chuard, Nathalie, Giriens, Valérie, Meerschman, Carine, ...
We investigated the therapeutic effects of two different versions of Aβ1–15 (16) liposome-based vaccines. Inoculation of APP-V717IxPS-1 (APPxPS-1) double-transgenic mice with tetra-palmitoylated...
Murine models of acute neuronopathic Gaucher disease
Enquist, Ida Berglin, Bianco, Christophe Lo, Ooka, Andreas, Nilsson, Eva, Månsson, Jan-Eric, Ehinger, Mats, ...
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase)....
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Aerts, Johannes M., Groener, Johanna E., Kuiper, Sijmen, Donker-Koopman, Wilma E., Strijland, Anneke, Ottenhoff, Roelof, ...
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive...