Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Bijina Balakrishnan"'
Autor:
Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101191- (2024)
Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term debilitating neurological deficits and primary ovarian insufficiency. Previously, we showed
Externí odkaz:
https://doaj.org/article/d2fda7725fe9434a86e2d785a3e6d368
Autor:
Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, Willisa Liou, Arielle Lupo, Sarah Bryant, Anastasiya Mankouski, Silvia Radenkovic, Graeme J. Preston, Akhilesh Pandey, Sihem Boudina, Tamas Kozicz, Eva Morava-Kozicz, Kent Lai
Publikováno v:
Translational Research. 257:1-14
Publikováno v:
Molecular Genetics and Metabolism. 138:107413
Autor:
Min Shen, Dingyin Tao, Kent Lai, Samarjit Patnaik, Li Liu, Manshu Tang, Matthew B. Boxer, Juan J. Marugan, Yaqin Zhang, Frank G. Whitby, Rajan Pragani, Bijina Balakrishnan, Christopher A. LeClair, Yuhong Fang, Christopher P. Hill, Matthew D. Hall, Surendra Karavadhi
Publikováno v:
J Med Chem
Classic galactosemia is a rare disease caused by inherited deficiency of galactose-1 phosphate uridylyltransferase (GALT). Accumulation of galactose-1 phosphate (gal-1P) is thought to be the major cause of the chronic complications associated with th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e97fe159b6a2ef492b3eb10ec969eba
https://europepmc.org/articles/PMC8884033/
https://europepmc.org/articles/PMC8884033/
Publikováno v:
Genetics in Medicine. 24:S20-S21
Publikováno v:
Molecular Genetics and Metabolism. 135:298
Autor:
Kent Lai, Marzia Pasquali, Irene De Biase, Rong Mao, Tatiana Yuzyuk, Elizabeth L. Schwarz, Judith A. Hobert, Nicola Longo, Bijina Balakrishnan
Publikováno v:
Molecular Genetics and Metabolism. 125:258-265
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400 ), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a co
Autor:
Kent Lai, Anwer Siddiqi, Kamalpreet Parmar, Merry Feng, Rose M. Caston, Bijina Balakrishnan, Manshu Tang, Wyman Chen
Publikováno v:
Journal of Inherited Metabolic Disease. 40:131-137
Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1
Autor:
Kandis Carter, Coleman T. Turgeon, Tamas Kozicz, Jan Verheijen, Kimiyo Raymond, Kevin J. Whitehead, Yueqin Yang, Eva Morava, Arielle Lupo, Bijina Balakrishnan, Kent Lai
Publikováno v:
J Inherit Metab Dis
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Patients with phosphoglucomutase (PGM1) deficiency, a congenital disorder of glycosylation (CDG) suffer from multiple disease phenotypes. Midline cleft defects are present at birth. Overtime, additional clinical phenotypes, which include severe hypog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef3b8096ad9bb5b60e3a93ba324064a
https://europepmc.org/articles/PMC6739163/
https://europepmc.org/articles/PMC6739163/
Autor:
J. Mella, Joshua Johnson, Anwer Siddiqi, A. Lupo, Bijina Balakrishnan, Kent Lai, Julie Hollien, E. Li
Publikováno v:
Biochim Biophys Acta Mol Basis Dis
Loss of galactose-1 phosphate uridylyltransferase (GALT) activity in humans results in Classic Galactosemia, and the GalT-deficient (GalT(−/−)) mouse mimics the patient condition. GalT(−/−) ovaries display elevated endoplasmic reticulum (ER)