Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Beth L. Thurberg"'
Autor:
Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adu
Externí odkaz:
https://doaj.org/article/7737861ecbf54c38965ac8ebac64bc3c
Autor:
Kuldeep Singh, Cathleen S. Cornell, Robert Jackson, Mostafa Kabiri, Michael Phipps, Mitul Desai, Robert Fogle, Xiaoyou Ying, Gulbenk Anarat-Cappillino, Sarah Geller, Jennifer Johnson, Errin Roberts, Katie Malley, Tim Devlin, Matthew DeRiso, Patricia Berthelette, Yao V. Zhang, Susan Ryan, Srinivas Rao, Beth L. Thurberg, Dinesh S. Bangari, Sirkka Kyostio-Moore
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of l-phenylalanine (Phe) metabolism. It is caused by a partial or complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for conversion of Phe to tyr
Externí odkaz:
https://doaj.org/article/85cf103dd353470493e9b182fec30ee3
Autor:
Beth L. Thurberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100626- (2020)
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body. The infantil
Externí odkaz:
https://doaj.org/article/ac0fc6bce4704bf29eefb1e5c9c95202
Autor:
Beth L. Thurberg, MD, PhD, Dominique P. Germain, MD, PhD, Fernando Perretta, MD, Iulia E. Jurca-Simina, MD, Juan M. Politei, MD
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 75-80 (2017)
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or
Externí odkaz:
https://doaj.org/article/4f71bba4bb3542bda5aa6544a3109992
Autor:
Haiqing Yi, Beth L. Thurberg, Sarah Curtis, Stephanie Austin, John Fyfe, Dwight D. Koeberl, Priya S. Kishnani, Baodong Sun
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 804-811 (2012)
SUMMARY Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disease caused by deficiency of glycogen debranching enzyme (GDE) in liver and muscle. The disorder is clinically heterogeneous and progressive, and there is no effective
Externí odkaz:
https://doaj.org/article/19f7fa5e7dc54dfa8da97f149c9a4f34
Autor:
Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Eubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Sandy Furey, Beth L. Thurberg, Atef Zaher, Monica Kumar
Publikováno v:
Genetics in medicine, 24(7), 1425-1436. Lippincott Williams and Wilkins
Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults. Methods: A phase 2/3, 52 week, internationa
Autor:
Beverly A. Teicher, Glenn Miller, Bruce Horten, Khodadad Mehraein, Beth L. Thurberg, Shiro Kataoka, Isao Ishida, Kazumasa Hasegawa, Nakayuki Honma, Rebecca Bagley, Gina Wallar, Carol Berger, James Mascarello, Leslie Kurtzberg, Robert Smale, William Weber, Maritza Curiel, Cecile Rouleau
Purpose: Endosialin/CD248/tumor endothelial marker 1 is expressed in stromal cells, endothelial cells, and pericytes in various tumors; however, few studies have focused on expression in malignant cells.Experimental Design: We studied expression of e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be12cf58f27425798d7cdb94094a1a3
https://doi.org/10.1158/1078-0432.c.6517080
https://doi.org/10.1158/1078-0432.c.6517080
Autor:
Beverly A. Teicher, Glenn Miller, Bruce Horten, Khodadad Mehraein, Beth L. Thurberg, Shiro Kataoka, Isao Ishida, Kazumasa Hasegawa, Nakayuki Honma, Rebecca Bagley, Gina Wallar, Carol Berger, James Mascarello, Leslie Kurtzberg, Robert Smale, William Weber, Maritza Curiel, Cecile Rouleau
Supplementary Data from Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e766b31f41cf854afd8317a571b542
https://doi.org/10.1158/1078-0432.22439643.v1
https://doi.org/10.1158/1078-0432.22439643.v1
Autor:
Patrick B. Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J. Hopkin, Elena Lukina, Anna Tylki-Szymanska, Atef Zaher, Charlotte Sensinger, Sebastiaan J.M. Gaemers, Vijay Modur, Beth L. Thurberg, Jyoti Sharma, Behzad Najafian, Michael Mauer, Pronabesh DasMahapatra, William R. Wilcox, Dominique P. Germain
Publikováno v:
Molecular Genetics and Metabolism. 138:106963
Venglustat inhibits the enzymatic conversion of ceramide to glucosylceramide, reducing available substrate for the synthesis of more complex glycosphingolipids. It offers a potential new approach to the treatment of patients with Fabry disease (α-Ga
Autor:
Camilla, Tøndel, Beth L, Thurberg, Pronabesh, DasMahapatra, Nicole, Lyn, Manish, Maski, Julie L, Batista, Kelly, George, Hiren, Patel, Ali, Hariri
Publikováno v:
Molecular Genetics and Metabolism
Fabry disease (FD) is a rare lysosomal storage disorder, characterized by a reduction in α-galactosidase A enzyme activity and the progressive accumulation of globotriaosylceramide (GL3) and its metabolites in the cells of various organs. Agalsidase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e938aa0ce608e3875ce1faca3c5828
https://hdl.handle.net/11250/3046484
https://hdl.handle.net/11250/3046484