This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 2000:324:413-23.

doi: 10.1016/s0076-6879(00)24250-x.

Diagnosis and mutational analysis of maple syrup urine disease using cell cultures

J L Chuang¹, D T Chuang

Affiliations

PMID: 10989449
DOI: 10.1016/s0076-6879(00)24250-x

Diagnosis and mutational analysis of maple syrup urine disease using cell cultures

J L Chuang et al. Methods Enzymol. 2000.

. 2000:324:413-23.

doi: 10.1016/s0076-6879(00)24250-x.

Authors

J L Chuang¹, D T Chuang

Affiliation

¹ Department of Biochemistry, University of Texas, Southwestern Medical Center, Dallas 75390-9038, USA.

PMID: 10989449
DOI: 10.1016/s0076-6879(00)24250-x

No abstract available

PubMed Disclaimer

Similar articles

[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Matsuda I. Nobukuni Y, et al. Seikagaku. 1992 Feb;64(2):67-82. Seikagaku. 1992. PMID: 1593184 Review. Japanese. No abstract available.
Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes.
Patel MS, Hong YS, Kerr DS. Patel MS, et al. Methods Enzymol. 2000;324:453-64. doi: 10.1016/s0076-6879(00)24253-5. Methods Enzymol. 2000. PMID: 10989452 No abstract available.
Maple syrup urine disease 1954 to 1993.
Peinemann F, Danner DJ. Peinemann F, et al. J Inherit Metab Dis. 1994;17(1):3-15. doi: 10.1007/BF00735389. J Inherit Metab Dis. 1994. PMID: 8051937 Review. No abstract available.
Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.
Danner DJ, Litwer S, Herring WJ, Elsas LJ. Danner DJ, et al. Ann N Y Acad Sci. 1989;573:369-77. doi: 10.1111/j.1749-6632.1989.tb15012.x. Ann N Y Acad Sci. 1989. PMID: 2699404 Review. No abstract available.
Maple syrup urine disease: clinical and biochemical significance of gene analysis.
Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Matsuda I. Nobukuni Y, et al. J Inherit Metab Dis. 1991;14(5):787-92. doi: 10.1007/BF01799951. J Inherit Metab Dis. 1991. PMID: 1664011 No abstract available.

See all similar articles

Cited by

Functional Metabolic Mapping Reveals Highly Active Branched-Chain Amino Acid Metabolism in Human Astrocytes, Which Is Impaired in iPSC-Derived Astrocytes in Alzheimer's Disease.
Salcedo C, Andersen JV, Vinten KT, Pinborg LH, Waagepetersen HS, Freude KK, Aldana BI. Salcedo C, et al. Front Aging Neurosci. 2021 Sep 17;13:736580. doi: 10.3389/fnagi.2021.736580. eCollection 2021. Front Aging Neurosci. 2021. PMID: 34603012 Free PMC article.
Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase.
Tso SC, Qi X, Gui WJ, Chuang JL, Morlock LK, Wallace AL, Ahmed K, Laxman S, Campeau PM, Lee BH, Hutson SM, Tu BP, Williams NS, Tambar UK, Wynn RM, Chuang DT. Tso SC, et al. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9728-33. doi: 10.1073/pnas.1303220110. Epub 2013 May 28. Proc Natl Acad Sci U S A. 2013. PMID: 23716694 Free PMC article.
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Georgiou T, Chuang JL, Wynn RM, Stylianidou G, Korson M, Chuang DT, Drousiotou A. Georgiou T, et al. Genet Test Mol Biomarkers. 2009 Oct;13(5):657-64. doi: 10.1089/gtmb.2009.0065. Genet Test Mol Biomarkers. 2009. PMID: 19715473 Free PMC article.
In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.
Sherry EB, Lee P, Choi IY. Sherry EB, et al. Neurochem Res. 2015 Dec;40(12):2647-85. doi: 10.1007/s11064-015-1772-1. Epub 2015 Nov 26. Neurochem Res. 2015. PMID: 26610379 Review.
In vivo assessment of increased oxidation of branched-chain amino acids in glioblastoma.
Suh EH, Hackett EP, Wynn RM, Chuang DT, Zhang B, Luo W, Sherry AD, Park JM. Suh EH, et al. Sci Rep. 2019 Jan 23;9(1):340. doi: 10.1038/s41598-018-37390-0. Sci Rep. 2019. PMID: 30674979 Free PMC article.

See all "Cited by" articles

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science
Medical
- Genetic Alliance