Search Results - "Koeberl, D."

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 by Frazier, D. M., Millington, D. S., McCandless, S. E., Koeberl, D. D., Weavil, S. D., Chaing, S. H., Muenzer, J.

“…Summary North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot…”
Get full text

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females by Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.

“…Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease…”
Get full text

Immunomodulatory, liver depot gene therapy for Pompe disease by Bond, J.E., Kishnani, P.S., Koeberl, D.D.

“…[Display omitted] •ERT has been ineffective for Pompe disease patients who form high, sustained antibody titers.•AAV-mediated liver-specific expression induced…”
Get full text

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia by Waskowicz, Lauren R, Zhou, Jin, Landau, Dustin J, Brooks, Elizabeth D, Lim, Andrea, Yavarow, Zollie A, Kudo, Tsubasa, Zhang, Haoyue, Wu, Yajun, Grant, Stuart, Young, Sarah P, Huat, Bay Boon, Yen, Paul M, Koeberl, Dwight D

“…Abstract Glucose-6-phosphatase α (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by…”
Get full text

Successful AAV8 readministration: Suppression of capsid‐specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease by Choi, Su Jin, Yi, John S., Lim, Jeong‐A, Tedder, Thomas F., Koeberl, Dwight D., Jeck, William, Desai, Ankit K., Rosenberg, Amy, Sun, Baodong, Kishnani, Priya S.

“…Background A major challenge to adeno‐associated virus (AAV)‐mediated gene therapy is the presence of anti‐AAV capsid neutralizing antibodies (NAbs), which can…”
Get full text

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance by Sun, Baodong, Bird, Andrew, Young, Sarah P., Kishnani, Priya S., Chen, Y.-T., Koeberl, Dwight D.

“…Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid α-glucosidase (GAA) (also called “acid maltase”),…”
Get full text

Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease by Zhang, Ping, Sun, Baodong, Osada, Takuya, Rodriguiz, Ramona, Yang, Xiao Yi, Luo, Xiaoyan, Kemper, Alex R, Clay, Timothy M, Koeberl, Dwight D

“…Pompe disease can be treated effectively, if immune tolerance to enzyme replacement therapy (ERT) with acid α-glucosidase (GAA) is present. An adeno-associated…”
Get more information

Preclinical Development of New Therapy for Glycogen Storage Diseases by Sun, Baodong, Brooks, Elizabeth D, Koeberl, Dwight D

“…Glycogen storage disease (GSD) consists of more than 10 discrete conditions for which the biochemical and genetic bases have been determined, and new therapies…”
Get more information

The Role of Hepatocyte Hemojuvelin in the Regulation of Bone Morphogenic Protein-6 and Hepcidin Expression in Vivo by Zhang, An-Sheng, Gao, Junwei, Koeberl, Dwight D., Enns, Caroline A.

“…Both hemojuvelin (HJV) and bone morphogenic protein-6 (BMP6) are essential for hepcidin expression. Hepcidin is the key peptide hormone in iron homeostasis,…”
Get full text

Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2 8 vector-mediated gene therapy in murine phenylketonuria by HARDING, C. O, GILLINGHAM, M. B, HAMMAN, K, CLARK, H, GOEBEL-DAGHIGHI, E, BIRD, A, KOEBERL, D. D

“…Novel recombinant adeno-associated virus vectors pseudotyped with serotype 8 capsid (rAAV2/8) have recently shown exciting promise as effective liver-directed…”
Get full text

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency by VanDemark, Andrew P, Hrizo, Stacy L, Eicher, Samantha L, Kowalski, Jules, Myers, Tracey D, Pfeifer, Megan R, Riley, Kacie N, Koeberl, Dwight D, Palladino, Michael J

“…Triosephosphate isomerase (TPI) deficiency (TPI Df) is an untreatable glycolytic enzymopathy that results in hemolytic anemia, progressive muscular impairment…”
Get full text

Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia by Arnson, Benjamin, Kang, Hye Ri, Brooks, Elizabeth D., Gheorghiu, Dorothy, Ilich, Ekaterina, Courtney, David, Everitt, Jeffrey I., Cullen, Bryan R., Koeberl, Dwight D.

“…Glycogen storage disease type Ia (GSD Ia) is the inherited deficiency of glucose-6-phosphatase (G6Pase), associated with life-threatening hypoglycemia and…”
Get full text

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice by Gao, Junwei, Chen, Juxing, De Domenico, Ivana, Koeller, David M., Harding, Cary O., Fleming, Robert E., Koeberl, Dwight D., Enns, Caroline A.

“…Hereditary hemochromatosis is caused by mutations in the hereditary hemochromatosis protein (HFE), transferrin-receptor 2 (TfR2), hemojuvelin, hepcidin, or…”
Get full text

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle by Koeberl, Dwight D., Luo, Xiaoyan, Sun, Baodong, McVie-Wylie, Alison, Dai, Jian, Li, Songtao, Banugaria, Suhrad G., Chen, Y.-T., Bali, Deeksha S.

“…Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the…”
Get full text

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease by Wang, Jason, Zhou, Chris J., Khodabukus, Alastair, Tran, Sabrina, Han, Sang-Oh, Carlson, Aaron L., Madden, Lauran, Kishnani, Priya S., Koeberl, Dwight D., Bursac, Nenad

“…In Pompe disease, the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) causes skeletal and cardiac muscle weakness, respiratory failure, and…”
Get full text

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy by Hannah, William B, Case, Laura E, Smith, Edward C, Walters, Crista, Bali, Deeksha, Kishnani, Priya S, Koeberl, Dwight D

“…Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that…”
Get full text

A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease by Han, Sang-oh, Pope, Rand, Li, Songtao, Kishnani, Priya S., Steet, Richard, Koeberl, Dwight D.

“…Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) fails to completely reverse muscle weakness in Pompe disease. β2-agonists…”
Get full text

Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease by Sun, Baodong, Kulis, Michael D, Young, Sarah P, Hobeika, Amy C, Li, Songtao, Bird, Andrew, Zhang, Haoyue, Li, Yifan, Clay, Timothy M, Burks, Wesley, Kishnani, Priya S, Koeberl, Dwight D

“…Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid…”
Get full text

Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease by Han, Sang-oh, Li, Songtao, McCall, Angela, Arnson, Benjamin, Everitt, Jeffrey I., Zhang, Haoyue, Young, Sarah P., ElMallah, Mai K., Koeberl, Dwight D.

“…Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus…”
Get full text

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia by KOEBERL, D. D, SUN, B. D, BEATY, R. M, CHEN, Y. T, DAMODARAN, T. V, BROWN, T, MILLINGTON, D. S, BENJAMIN, D. K, BIRD, A, SCHNEIDER, A, HILLMAN, S, JACKSON, M

“…The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and growth retardation in glycogen storage disease type Ia (GSD-Ia)…”
Get full text