PMC Articles for MedGen (Select 301223) - PMC

Select item 27537211.

Hepatocyte Transplantation (HTx) Corrects Selected Neurometabolic Abnormalities in Murine Intermediate Maple Syrup Urine Disease (iMSUD)

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

Biochim Biophys Acta. Author manuscript; available in PMC 2010 Oct 1.

Published in final edited form as: Biochim Biophys Acta. 2009 Oct; 1792(10): 1004–1010. Published online 2009 Aug 19. doi: 10.1016/j.bbadis.2009.08.006

PMCID:: PMC2753721

Abstract Article PDF–686K

Select item 4414272.

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.

J L Chuang, J R Davie, J M Chinsky, R M Wynn, R P Cox, D T Chuang

J Clin Invest. 1995 Mar; 95(3): 954–963. doi: 10.1172/JCI117804

PMCID:: PMC441427

Summary Page Browse PDF–2.7M

Select item 81623263.

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam

Int J Neonatal Screen. 2021 Jun; 7(2): 25. Published online 2021 May 14. doi: 10.3390/ijns7020025

PMCID:: PMC8162326

Abstract Article PDF–4.2M

Select item 19183484.

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

J. L. Chuang, C. R. Fisher, R. P. Cox, D. T. Chuang

Am J Hum Genet. 1994 Aug; 55(2): 297–304.

PMCID:: PMC1918348

Summary Page Browse PDF–1.6M

Select item 35937905.

Placental Stem Cell Correction of Murine Intermediate Maple Syrup Urine Disease

Kristen J. Skvorak, Kenneth Dorko, Fabio Marongiu, Veysel Tahan, Marc C. Hansel, Roberto Gramignoli, K. Michael Gibson, Stephen C. Strom

Hepatology. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hepatology. 2013 Mar; 57(3): 1017–1023. Published online 2013 Feb 15. doi: 10.1002/hep.26150

PMCID:: PMC3593790

Abstract Article PDF–730K

Select item 28352046.

Hepatocyte Transplantation Improves Phenotype and Extends Survival in a Murine Model of Intermediate Maple Syrup Urine Disease

Kristen J Skvorak, Harbhajan S Paul, Kenneth Dorko, Fabio Marongiu, Ewa Ellis, Donald Chace, Carolyn Ferguson, K Michael Gibson, Gregg E Homanics, Stephen C Strom

Mol Ther. 2009 Jul; 17(7): 1266–1273. Published online 2009 May 12. doi: 10.1038/mt.2009.99

PMCID:: PMC2835204

Abstract Article PDF–233K

Select item 99792847.

Diagnosis of an intermediate case of maple syrup urine disease: A case report

Yun-Ting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chun-Hua Zeng, Ling Su, Min-Zhi Peng, Xiu-Zhen Li

World J Clin Cases. 2023 Feb 16; 11(5): 1077–1085. Published online 2023 Feb 16. doi: 10.12998/wjcc.v11.i5.1077

PMCID:: PMC9979284

Abstract Article PDF–2.3M

Select item 30240408.

Phenylbutyrate therapy for maple syrup urine disease

Nicola Brunetti-Pierri, Brendan Lanpher, Ayelet Erez, Elitsa A. Ananieva, Mohammad Islam, Juan C. Marini, Qin Sun, Chunli Yu, Madhuri Hegde, Jun Li, R. Max Wynn, David T. Chuang, Susan Hutson, Brendan Lee

Hum Mol Genet. 2011 Feb 15; 20(4): 631–640. Published online 2010 Nov 23. doi: 10.1093/hmg/ddq507

PMCID:: PMC3024040

Abstract Article PDF–279K

Select item 100260309.

A short-chain acyl-CoA synthetase that supports branched-chain fatty acid synthesis in Staphylococcus aureus

Sarah G. Whaley, Matthew W. Frank, Charles O. Rock

J Biol Chem. 2023 Apr; 299(4): 103036. Published online 2023 Feb 16. doi: 10.1016/j.jbc.2023.103036

PMCID:: PMC10026030

Abstract Article PDF–2.4M

Select item 493150310.

Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD

Davis S. Sonnet, Monique N. O’Leary, Mark A. Gutierrez, Steven M. Nguyen, Samiha Mateen, Yuehmei Hsu, Kylie P. Mitchell, Antonio J. Lopez, Jerry Vockley, Brian K. Kennedy, Arvind Ramanathan

Sci Rep. 2016; 6: 28775. Published online 2016 Jul 4. doi: 10.1038/srep28775

PMCID:: PMC4931503

Abstract Article PDF–1.2M

Select item 402242411.

Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease

Kara R Vogel, Erland Arning, Brandi L Wasek, Sterling McPherson, Teodoro Bottiglieri, K Michael Gibson

Orphanet J Rare Dis. 2014; 9: 73. Published online 2014 May 8. doi: 10.1186/1750-1172-9-73

PMCID:: PMC4022424

Abstract Article PDF–584K

Select item 305110512.

Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models

Haipeng Sun, Gang Lu, Shuxun Ren, Jaunian Chen, Yibin Wang

Pediatr Cardiol. 2011; 32(3): 305–310. Published online 2011 Jan 7. doi: 10.1007/s00246-010-9856-9

PMCID:: PMC3051105

Abstract Article PDF–581K

Select item 268911113.

Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells

Gang Lu, Haipeng Sun, Pengxiang She, Ji-Youn Youn, Sarah Warburton, Peipei Ping, Thomas M. Vondriska, Hua Cai, Christopher J. Lynch, Yibin Wang

J Clin Invest. 2009 Jun 1; 119(6): 1678–1687. Published online 2009 May 1. doi: 10.1172/JCI38151

PMCID:: PMC2689111

Abstract Article PDF–2.0M

Select item 266894414.

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

William J. Zinnanti, Jelena Lazovic, Kathleen Griffin, Kristen J. Skvorak, Harbhajan S. Paul, Gregg E. Homanics, Maria C. Bewley, Keith C. Cheng, Kathryn F. LaNoue, John M. Flanagan

Brain. 2009 Apr; 132(4): 903–918. Published online 2009 Mar 17. doi: 10.1093/brain/awp024

PMCID:: PMC2668944

Abstract Article PDF–2.3M

Select item 144820815.

Production and characterization of murine models of classic and intermediate maple syrup urine disease

Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins, Harbhajan S Paul

BMC Med Genet. 2006; 7: 33. Published online 2006 Mar 31. doi: 10.1186/1471-2350-7-33

PMCID:: PMC1448208

Abstract Article PDF–547K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 15

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity