Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy

Autor: Jelena Lazovic, William J. Zinnanti

Publikováno v: Journal of Inherited Metabolic Disease. 35:71-79

Maple syrup urine disease (MSUD) was first recognized as an inherited lethal encephalopathy beginning in the first week of life and associated with an unusual odor in the urine of affected children. It was later confirmed as a deficiency of branched-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::381ca0b88a86ed72963cf1a14486c13c
https://doi.org/10.1007/s10545-011-9333-5

Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)

Autor: Erland Arning, Kristen J. Skvorak, Erwin E.W. Jansen, Harbhajan S Paul, Qin Sun, K. Michael Gibson, C. Jakobs, Elizabeth J. Hager, Teodoro Bottiglieri, William J. Zinnanti, Gregg E. Homanics, Stephen C. Strom

Publikováno v: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1792(10), 1004-1010. Elsevier
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2009, 1792 (10), pp.1004. ⟨10.1016/j.bbadis.2009.08.006⟩
Skvorak, K J, Hager, E J, Arning, E, Bottiglieri, T, Paul, H, Strom, S E, Homanics, G E, Sun, Q, Jansen, E E W, Jakobs, C A J M, Zinnanti, W J & Gibson, K M 2009, ' Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD) ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1792, no. 10, pp. 1004-1010 . https://doi.org/10.1016/j.bbadis.2009.08.006

International audience; Skvorak and coworkers [1] demonstrated the therapeutic efficacy of HTx in a murine model of iMSUD, confirming significant metabolic improvement and survival. To determine the effect of HTx on extrahepatic organs, we examined t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfb50d43753cdaa953b09c84a93836a

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

Autor: Keith C. Cheng, Stephen I. Goodman, Ian A. Simpson, Russell E. Jacobs, James P. O'Callaghan, Michael Woontner, Jelena Lazovic, Cathy Housman, James R. Connor, William J. Zinnanti, Kathryn F. LaNoue

Publikováno v: Journal of Clinical Investigation. 117:3258-3270

Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease. Affected children commonly suffer acute brain injury in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4337b4fc649f683a3f7a9980873bfdbe
https://doi.org/10.1172/jci31617

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

Autor: Jelena Lazovic, William J. Zinnanti, Lawrence Steinman, David A. Antonetti, James R. Connor, David M. Koeller, Cathy Housman

Publikováno v: Acta Neuropathologica Communications

Background Metabolic stroke is the rapid onset of lasting central neurological deficit associated with decompensation of an underlying metabolic disorder. Glutaric aciduria type I (GA1) is an inherited disorder of lysine and tryptophan metabolism pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7fce048edf0ea47305b97b9a92e754
https://pubmed.ncbi.nlm.nih.gov/24468193

Initial Studies to Cure Maple Syrup Urine Disease (MSUD) in a Mouse Model

Autor: Keith C. Cheng, X. Xiao, Gregg E. Homanics, Harbhajan S Paul, J.L. Xiao, Kristen J. Skvorak, Carolyn Ferguson, William J. Zinnanti

Publikováno v: The FASEB Journal. 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6f749998276b6132aa916339d83490b0
https://doi.org/10.1096/fasebj.21.6.a1149-b