Zobrazeno 1 - 10
of 169
pro vyhledávání: '"Stephen D Cederbaum"'
Autor:
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie AK Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in d
Externí odkaz:
https://doaj.org/article/1fdc6566631f4520874fb9e231323021
Autor:
Maritza J Romero, Lin eYao, Supriya eSridhar, Anil eBhatta, Huijuan eDou, Ganesan eRamesh, Michael W Brands, David M Pollock, Ruth B Caldwell, Stephen D Cederbaum, C Alvin eHead, Zsolt eBagi, Rudolf eLucas, Robert William Caldwell
Publikováno v:
Frontiers in Immunology, Vol 4 (2013)
Rationale. Diabetic nephropathy is a major cause of end-stage renal disease, associated with endothelial dysfunction. Chronic supplementation of L-arginine (L-arg), the substrate for endothelial nitric oxide synthase (eNOS), failed to improve vascula
Externí odkaz:
https://doaj.org/article/6d7d8457eb6648c4aa8cea14f787d100
Autor:
Suhail Khoja, Xiao-Bo Liu, Brian Truong, Matthew Nitzahn, Jenna Lambert, Adam Eliav, Eram Nasser, Emma Randolph, Kristine E. Burke, Rebecca White, Xuling Zhu, Paolo G.V. Martini, Itzhak Nissim, Stephen D. Cederbaum, Gerald S. Lipshutz
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 859-874 (2022)
Arginase deficiency is associated with prominent neuromotor features, including spastic diplegia, clonus, and hyperreflexia; intellectual disability and progressive neurological decline are other signs. In a constitutive murine model, we recently des
Externí odkaz:
https://doaj.org/article/27c6ab38d6da42bdbac80e2bb9c3a868
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES.
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19165f3153de8de623a47c03187f0be0
https://pubmed.ncbi.nlm.nih.gov/36175366
https://pubmed.ncbi.nlm.nih.gov/36175366
Publikováno v:
Molecular Genetics and Metabolism. 138:107558
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a2bab4b949d39d272d284daa05a71e0
https://doi.org/10.1016/j.ymgme.2023.107558
https://doi.org/10.1016/j.ymgme.2023.107558
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1262f2e85df013271b5a1069fa485191
https://doi.org/10.2139/ssrn.4291835
https://doi.org/10.2139/ssrn.4291835
Autor:
Gerald S. Lipshutz, Gabriella Allegri, Xiao-Bo Liu, Kristine Burke, Xuling Zhu, Stephen D. Cederbaum, Johannes Häberle, Paolo Martini, Brian Truong
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 116, iss 42
Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a45d8e75beb8c7d7ae24c7e66b679b
https://doi.org/10.1073/pnas.1906182116
https://doi.org/10.1073/pnas.1906182116
Autor:
Rossana Sanchez Russo, Charles M. Rowland, Chung Lee, Pranoot Tanpaiboon, Stephen D. Cederbaum, Inderneel Sahai, Denise Salazar, Derek Wong, Yue Huang, Felicitas Lacbawan, Rajesh Sharma, Juanita Neira, Susan Sklower Brooks, Annette Feigenbaum, Kelly E. Jackson
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008e4d149ea6d39a12480c95e77f45a7
https://pubmed.ncbi.nlm.nih.gov/33732618
https://pubmed.ncbi.nlm.nih.gov/33732618
Autor:
Alex K. Lam, Michael G. Lin, Stephanie A.K. Angarita, Suhail Khoja, Brian Truong, Abha K. Rajbhandari, Sergio Duarte, Matthew Nitzahn, Stephen D Cederbaum, Gerald S. Lipshutz, Irina Zhuravka
Publikováno v:
Molecular genetics and metabolism, vol 124, iss 2
The transplantation, engraftment, and expansion of primary hepatocytes have the potential to be an effective therapy for metabolic disorders of the liver including those of nitrogen metabolism. To date, such methods for the treatment of urea cycle di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cde54ba3e3b0516b86e20ad0a1d81a3
https://doi.org/10.1016/j.ymgme.2018.04.005
https://doi.org/10.1016/j.ymgme.2018.04.005
Autor:
H. Tang, William R. Wilcox, Karen Leydiker, H.J. Lin, Natalie M. Gallant, Yael Wilnai, Seymour Packman, Gregory M. Enns, Chung Lee, Jose E. Abdenur, Lisa Feuchtbaum, Fred Lorey, Jennifer M. Carter, Stephen D. Cederbaum
Publikováno v:
Molecular Genetics and Metabolism. 122:76-84
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a56a3434b245e8c1ab0afce380bbc06
https://doi.org/10.1016/j.ymgme.2017.06.015
https://doi.org/10.1016/j.ymgme.2017.06.015